共 18 条
[1]
Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism
[J].
Ansari, Morad
;
Poke, Gemma
;
Ferry, Quentin
;
Williamson, Kathleen
;
Aldridge, Roland
;
Meynert, Alison M.
;
Bengani, Hemant
;
Chan, Cheng Yee
;
Kayserili, Hulya
;
Avci, Sahin
;
Hennekam, Raoul C. M.
;
Lampe, Anne K.
;
Redeker, Egbert
;
Homfray, Tessa
;
Ross, Alison
;
Smeland, Marie Falkenberg
;
Mansour, Sahar
;
Parker, Michael J.
;
Cook, Jacqueline A.
;
Splitt, Miranda
;
Fisher, Richard B.
;
Fryer, Alan
;
Magee, Alex C.
;
Wilkie, Andrew
;
Barnicoat, Angela
;
Brady, Angela F.
;
Cooper, Nicola S.
;
Mercer, Catherine
;
Deshpande, Charu
;
Bennett, Christopher P.
;
Pilz, Daniela T.
;
Ruddy, Deborah
;
Cilliers, Deirdre
;
Johnson, Diana S.
;
Josifova, Dragana
;
Rosser, Elisabeth
;
Thompson, Elizabeth M.
;
Wakeling, Emma
;
Kinning, Esther
;
Stewart, Fiona
;
Flinter, Frances
;
Girisha, Katta M.
;
Cox, Helen
;
Firth, Helen V.
;
Kingston, Helen
;
Wee, Jamie S.
;
Hurst, Jane A.
;
Clayton-Smith, Jill
;
Tolmie, John
;
Vogt, Julie
.
JOURNAL OF MEDICAL GENETICS,
2014, 51 (10)
:659-668

Ansari, Morad
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Edinburgh, MRC, Inst Genet & Mol Med, Human Genet Unit, Edinburgh EH4 2XU, Midlothian, Scotland Univ Edinburgh, MRC, Inst Genet & Mol Med, Human Genet Unit, Edinburgh EH4 2XU, Midlothian, Scotland

论文数: 引用数:
h-index:
机构:

Ferry, Quentin
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Oxford, Dept Engn Sci, Visual Geometry Grp, Oxford OX1 3PJ, England
Univ Oxford, MRC, Funct Genom Unit, Dept Physiol Anat & Genet, Oxford, England Univ Edinburgh, MRC, Inst Genet & Mol Med, Human Genet Unit, Edinburgh EH4 2XU, Midlothian, Scotland

Williamson, Kathleen
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Edinburgh, MRC, Inst Genet & Mol Med, Human Genet Unit, Edinburgh EH4 2XU, Midlothian, Scotland Univ Edinburgh, MRC, Inst Genet & Mol Med, Human Genet Unit, Edinburgh EH4 2XU, Midlothian, Scotland

Aldridge, Roland
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Edinburgh, MRC, Inst Genet & Mol Med, Human Genet Unit, Edinburgh EH4 2XU, Midlothian, Scotland Univ Edinburgh, MRC, Inst Genet & Mol Med, Human Genet Unit, Edinburgh EH4 2XU, Midlothian, Scotland

Meynert, Alison M.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Edinburgh, MRC, Inst Genet & Mol Med, Human Genet Unit, Edinburgh EH4 2XU, Midlothian, Scotland Univ Edinburgh, MRC, Inst Genet & Mol Med, Human Genet Unit, Edinburgh EH4 2XU, Midlothian, Scotland

Bengani, Hemant
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Edinburgh, MRC, Inst Genet & Mol Med, Human Genet Unit, Edinburgh EH4 2XU, Midlothian, Scotland Univ Edinburgh, MRC, Inst Genet & Mol Med, Human Genet Unit, Edinburgh EH4 2XU, Midlothian, Scotland

Chan, Cheng Yee
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Edinburgh, MRC, Inst Genet & Mol Med, Human Genet Unit, Edinburgh EH4 2XU, Midlothian, Scotland Univ Edinburgh, MRC, Inst Genet & Mol Med, Human Genet Unit, Edinburgh EH4 2XU, Midlothian, Scotland

Kayserili, Hulya
论文数: 0 引用数: 0
h-index: 0
机构:
Istanbul Univ, Istanbul Fac Med, Dept Med Genet, Istanbul, Turkey Univ Edinburgh, MRC, Inst Genet & Mol Med, Human Genet Unit, Edinburgh EH4 2XU, Midlothian, Scotland

Avci, Sahin
论文数: 0 引用数: 0
h-index: 0
机构:
Istanbul Univ, Istanbul Fac Med, Dept Med Genet, Istanbul, Turkey Univ Edinburgh, MRC, Inst Genet & Mol Med, Human Genet Unit, Edinburgh EH4 2XU, Midlothian, Scotland

Hennekam, Raoul C. M.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Amsterdam, Acad Med Ctr, Dept Clin Genet, NL-1105 AZ Amsterdam, Netherlands Univ Edinburgh, MRC, Inst Genet & Mol Med, Human Genet Unit, Edinburgh EH4 2XU, Midlothian, Scotland

Lampe, Anne K.
论文数: 0 引用数: 0
h-index: 0
机构:
Western Gen Hosp, Mol Med Ctr, South East Scotland Clin Genet Serv, Edinburgh EH4 2XU, Midlothian, Scotland Univ Edinburgh, MRC, Inst Genet & Mol Med, Human Genet Unit, Edinburgh EH4 2XU, Midlothian, Scotland

Redeker, Egbert
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Amsterdam, Acad Med Ctr, Dept Clin Genet, NL-1105 AZ Amsterdam, Netherlands Univ Edinburgh, MRC, Inst Genet & Mol Med, Human Genet Unit, Edinburgh EH4 2XU, Midlothian, Scotland

Homfray, Tessa
论文数: 0 引用数: 0
h-index: 0
机构:
St Georges Univ London, Med Genet Unit, London, England Univ Edinburgh, MRC, Inst Genet & Mol Med, Human Genet Unit, Edinburgh EH4 2XU, Midlothian, Scotland

Ross, Alison
论文数: 0 引用数: 0
h-index: 0
机构:
Clin Genet Ctr, North Scotland Reg Genet Serv, Aberdeen, Scotland Univ Edinburgh, MRC, Inst Genet & Mol Med, Human Genet Unit, Edinburgh EH4 2XU, Midlothian, Scotland

Smeland, Marie Falkenberg
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Hosp Northern Norway, Dept Med Genet, Tromso, Norway Univ Edinburgh, MRC, Inst Genet & Mol Med, Human Genet Unit, Edinburgh EH4 2XU, Midlothian, Scotland

Mansour, Sahar
论文数: 0 引用数: 0
h-index: 0
机构:
St Georges Univ London, Med Genet Unit, London, England Univ Edinburgh, MRC, Inst Genet & Mol Med, Human Genet Unit, Edinburgh EH4 2XU, Midlothian, Scotland

Parker, Michael J.
论文数: 0 引用数: 0
h-index: 0
机构:
NHS Fdn Trust, Sheffield Childrens Hosp, Sheffield, S Yorkshire, England Univ Edinburgh, MRC, Inst Genet & Mol Med, Human Genet Unit, Edinburgh EH4 2XU, Midlothian, Scotland

Cook, Jacqueline A.
论文数: 0 引用数: 0
h-index: 0
机构:
NHS Fdn Trust, Sheffield Childrens Hosp, Sheffield, S Yorkshire, England Univ Edinburgh, MRC, Inst Genet & Mol Med, Human Genet Unit, Edinburgh EH4 2XU, Midlothian, Scotland

Splitt, Miranda
论文数: 0 引用数: 0
h-index: 0
机构:
Newcastle Upon Tyne Hosp, Northern Genet Serv, Newcastle Upon Tyne, Tyne & Wear, England Univ Edinburgh, MRC, Inst Genet & Mol Med, Human Genet Unit, Edinburgh EH4 2XU, Midlothian, Scotland

Fisher, Richard B.
论文数: 0 引用数: 0
h-index: 0
机构:
Newcastle Upon Tyne Hosp, Northern Genet Serv, Newcastle Upon Tyne, Tyne & Wear, England Univ Edinburgh, MRC, Inst Genet & Mol Med, Human Genet Unit, Edinburgh EH4 2XU, Midlothian, Scotland

Fryer, Alan
论文数: 0 引用数: 0
h-index: 0
机构:
Alder Hay Childrens Hosp, Dept Clin Genet, Liverpool, Merseyside, England Univ Edinburgh, MRC, Inst Genet & Mol Med, Human Genet Unit, Edinburgh EH4 2XU, Midlothian, Scotland

Magee, Alex C.
论文数: 0 引用数: 0
h-index: 0
机构:
Belfast City Hosp, NIRGS, Belfast BT9 7AD, Antrim, North Ireland Univ Edinburgh, MRC, Inst Genet & Mol Med, Human Genet Unit, Edinburgh EH4 2XU, Midlothian, Scotland

Wilkie, Andrew
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Oxford, John Radcliffe Hosp, Weatherall Inst Mol Med, Oxford OX3 9DU, England Univ Edinburgh, MRC, Inst Genet & Mol Med, Human Genet Unit, Edinburgh EH4 2XU, Midlothian, Scotland

Barnicoat, Angela
论文数: 0 引用数: 0
h-index: 0
机构:
Great Ormond St Hosp Sick Children, Clin Genet Dept, London WC1N 3JH, England Univ Edinburgh, MRC, Inst Genet & Mol Med, Human Genet Unit, Edinburgh EH4 2XU, Midlothian, Scotland

Brady, Angela F.
论文数: 0 引用数: 0
h-index: 0
机构:
North West London Hosp NHS Trust, Kennedy Galton Ctr, North West Thames Reg Genet Serv, Harrow, Middx, England Univ Edinburgh, MRC, Inst Genet & Mol Med, Human Genet Unit, Edinburgh EH4 2XU, Midlothian, Scotland

Cooper, Nicola S.
论文数: 0 引用数: 0
h-index: 0
机构:
Birmingham Womens Hosp, West Midlands Reg Clin Genet Serv, Birmingham, W Midlands, England Univ Edinburgh, MRC, Inst Genet & Mol Med, Human Genet Unit, Edinburgh EH4 2XU, Midlothian, Scotland

Mercer, Catherine
论文数: 0 引用数: 0
h-index: 0
机构:
Princess Anne Hosp, Wessex Clin Genet Serv, Southampton, Hants, England Univ Edinburgh, MRC, Inst Genet & Mol Med, Human Genet Unit, Edinburgh EH4 2XU, Midlothian, Scotland

Deshpande, Charu
论文数: 0 引用数: 0
h-index: 0
机构:
Guys & St Thomas NHS Fdn Trust, Guys Hosp, Dept Genet, London, England Univ Edinburgh, MRC, Inst Genet & Mol Med, Human Genet Unit, Edinburgh EH4 2XU, Midlothian, Scotland

Bennett, Christopher P.
论文数: 0 引用数: 0
h-index: 0
机构:
Yorkshire Reg Genet Serv, Leeds, W Yorkshire, England Univ Edinburgh, MRC, Inst Genet & Mol Med, Human Genet Unit, Edinburgh EH4 2XU, Midlothian, Scotland

Pilz, Daniela T.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Wales Hosp, Inst Med Genet, Cardiff CF4 4XN, S Glam, Wales Univ Edinburgh, MRC, Inst Genet & Mol Med, Human Genet Unit, Edinburgh EH4 2XU, Midlothian, Scotland

Ruddy, Deborah
论文数: 0 引用数: 0
h-index: 0
机构:
Guys & St Thomas NHS Fdn Trust, Guys Hosp, Dept Genet, London, England Univ Edinburgh, MRC, Inst Genet & Mol Med, Human Genet Unit, Edinburgh EH4 2XU, Midlothian, Scotland

Cilliers, Deirdre
论文数: 0 引用数: 0
h-index: 0
机构:
Churchill Hosp, Dept Clin Genet, Oxford OX3 7LJ, England Univ Edinburgh, MRC, Inst Genet & Mol Med, Human Genet Unit, Edinburgh EH4 2XU, Midlothian, Scotland

Johnson, Diana S.
论文数: 0 引用数: 0
h-index: 0
机构:
NHS Fdn Trust, Sheffield Childrens Hosp, Sheffield, S Yorkshire, England Univ Edinburgh, MRC, Inst Genet & Mol Med, Human Genet Unit, Edinburgh EH4 2XU, Midlothian, Scotland

Josifova, Dragana
论文数: 0 引用数: 0
h-index: 0
机构:
Guys & St Thomas NHS Fdn Trust, Guys Hosp, Dept Genet, London, England Univ Edinburgh, MRC, Inst Genet & Mol Med, Human Genet Unit, Edinburgh EH4 2XU, Midlothian, Scotland

Rosser, Elisabeth
论文数: 0 引用数: 0
h-index: 0
机构:
Great Ormond St Hosp Sick Children, Clin Genet Dept, London WC1N 3JH, England Univ Edinburgh, MRC, Inst Genet & Mol Med, Human Genet Unit, Edinburgh EH4 2XU, Midlothian, Scotland

Thompson, Elizabeth M.
论文数: 0 引用数: 0
h-index: 0
机构:
Womens & Childrens Hosp, SA Clin Genet Serv, Adelaide, SA, Australia
Univ Adelaide, Dept Paediat, Adelaide, SA, Australia Univ Edinburgh, MRC, Inst Genet & Mol Med, Human Genet Unit, Edinburgh EH4 2XU, Midlothian, Scotland

Wakeling, Emma
论文数: 0 引用数: 0
h-index: 0
机构:
North West London Hosp NHS Trust, Kennedy Galton Ctr, North West Thames Reg Genet Serv, Harrow, Middx, England Univ Edinburgh, MRC, Inst Genet & Mol Med, Human Genet Unit, Edinburgh EH4 2XU, Midlothian, Scotland

Kinning, Esther
论文数: 0 引用数: 0
h-index: 0
机构:
Yorkhill Hosp, Ferguson Smith Ctr Clin Genet, West Scotland Reg Genet Serv, Glasgow, Lanark, Scotland Univ Edinburgh, MRC, Inst Genet & Mol Med, Human Genet Unit, Edinburgh EH4 2XU, Midlothian, Scotland

Stewart, Fiona
论文数: 0 引用数: 0
h-index: 0
机构:
Belfast City Hosp, NIRGS, Belfast BT9 7AD, Antrim, North Ireland Univ Edinburgh, MRC, Inst Genet & Mol Med, Human Genet Unit, Edinburgh EH4 2XU, Midlothian, Scotland

Flinter, Frances
论文数: 0 引用数: 0
h-index: 0
机构:
Guys & St Thomas NHS Fdn Trust, Guys Hosp, Dept Genet, London, England Univ Edinburgh, MRC, Inst Genet & Mol Med, Human Genet Unit, Edinburgh EH4 2XU, Midlothian, Scotland

Girisha, Katta M.
论文数: 0 引用数: 0
h-index: 0
机构:
Manipal Univ, Kasturba Med Coll, Dept Med Genet, Manipal, Karnataka, India Univ Edinburgh, MRC, Inst Genet & Mol Med, Human Genet Unit, Edinburgh EH4 2XU, Midlothian, Scotland

Cox, Helen
论文数: 0 引用数: 0
h-index: 0
机构:
Birmingham Womens Hosp, West Midlands Reg Clin Genet Serv, Birmingham, W Midlands, England Univ Edinburgh, MRC, Inst Genet & Mol Med, Human Genet Unit, Edinburgh EH4 2XU, Midlothian, Scotland

Firth, Helen V.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Cambridge, Addenbrookes Hosp, Dept Med Genet, Cambridge CB2 2QQ, England Univ Edinburgh, MRC, Inst Genet & Mol Med, Human Genet Unit, Edinburgh EH4 2XU, Midlothian, Scotland

Kingston, Helen
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Manchester, MAHSC, Manchester Ctr Genom Med, Fac Med & Human Sci,Inst Human Dev, Manchester, Lancs, England Univ Edinburgh, MRC, Inst Genet & Mol Med, Human Genet Unit, Edinburgh EH4 2XU, Midlothian, Scotland

Wee, Jamie S.
论文数: 0 引用数: 0
h-index: 0
机构:
Kingston Hosp NHS Trust, Dept Dermatol, Kingston Upon Thames, Surrey, England Univ Edinburgh, MRC, Inst Genet & Mol Med, Human Genet Unit, Edinburgh EH4 2XU, Midlothian, Scotland

Hurst, Jane A.
论文数: 0 引用数: 0
h-index: 0
机构:
Great Ormond St Hosp Sick Children, Clin Genet Dept, London WC1N 3JH, England Univ Edinburgh, MRC, Inst Genet & Mol Med, Human Genet Unit, Edinburgh EH4 2XU, Midlothian, Scotland

Clayton-Smith, Jill
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Manchester, MAHSC, Manchester Ctr Genom Med, Fac Med & Human Sci,Inst Human Dev, Manchester, Lancs, England Univ Edinburgh, MRC, Inst Genet & Mol Med, Human Genet Unit, Edinburgh EH4 2XU, Midlothian, Scotland

Tolmie, John
论文数: 0 引用数: 0
h-index: 0
机构:
Yorkhill Hosp, Ferguson Smith Ctr Clin Genet, West Scotland Reg Genet Serv, Glasgow, Lanark, Scotland Univ Edinburgh, MRC, Inst Genet & Mol Med, Human Genet Unit, Edinburgh EH4 2XU, Midlothian, Scotland

Vogt, Julie
论文数: 0 引用数: 0
h-index: 0
机构:
Birmingham Womens Hosp, West Midlands Reg Clin Genet Serv, Birmingham, W Midlands, England Univ Edinburgh, MRC, Inst Genet & Mol Med, Human Genet Unit, Edinburgh EH4 2XU, Midlothian, Scotland
[2]
Somatic mosaicism in a Cornelia de Lange syndrome patient with NIPBL mutation identified by different next generation sequencing approaches
[J].
Baquero-Montoya, C.
;
Gil-Rodriguez, M. C.
;
Braunholz, D.
;
Teresa-Rodrigo, M. E.
;
Obieglo, C.
;
Gener, B.
;
Schwarzmayr, T.
;
Strom, T. M.
;
Gomez-Puertas, P.
;
Puisac, B.
;
Gillessen-Kaesbach, G.
;
Musio, A.
;
Ramos, F. J.
;
Kaiser, F. J.
;
Pie, J.
.
CLINICAL GENETICS,
2014, 86 (06)
:595-597

Baquero-Montoya, C.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Zaragoza, Sch Med, Dept Pharmacol, Unit Clin Genet & Funct Genom, E-50009 Zaragoza, Spain
Univ Zaragoza, Sch Med, Dept Physiol, Unit Clin Genet & Funct Genom, E-50009 Zaragoza, Spain
Univ Zaragoza, Sch Med, Dept Pediat, Unit Clin Genet & Funct Genom, E-50009 Zaragoza, Spain Univ Zaragoza, Sch Med, Dept Pharmacol, Unit Clin Genet & Funct Genom, E-50009 Zaragoza, Spain

Gil-Rodriguez, M. C.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Zaragoza, Sch Med, Dept Pharmacol, Unit Clin Genet & Funct Genom, E-50009 Zaragoza, Spain
Univ Zaragoza, Sch Med, Dept Physiol, Unit Clin Genet & Funct Genom, E-50009 Zaragoza, Spain
Univ Zaragoza, Sch Med, Dept Pediat, Unit Clin Genet & Funct Genom, E-50009 Zaragoza, Spain Univ Zaragoza, Sch Med, Dept Pharmacol, Unit Clin Genet & Funct Genom, E-50009 Zaragoza, Spain

Braunholz, D.
论文数: 0 引用数: 0
h-index: 0
机构:
Med Univ Lubeck, Inst Humangenet Lubeck, D-23538 Lubeck, Germany Univ Zaragoza, Sch Med, Dept Pharmacol, Unit Clin Genet & Funct Genom, E-50009 Zaragoza, Spain

Teresa-Rodrigo, M. E.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Zaragoza, Sch Med, Dept Pharmacol, Unit Clin Genet & Funct Genom, E-50009 Zaragoza, Spain
Univ Zaragoza, Sch Med, Dept Physiol, Unit Clin Genet & Funct Genom, E-50009 Zaragoza, Spain
Univ Zaragoza, Sch Med, Dept Pediat, Unit Clin Genet & Funct Genom, E-50009 Zaragoza, Spain Univ Zaragoza, Sch Med, Dept Pharmacol, Unit Clin Genet & Funct Genom, E-50009 Zaragoza, Spain

Obieglo, C.
论文数: 0 引用数: 0
h-index: 0
机构:
Med Univ Lubeck, Inst Humangenet Lubeck, D-23538 Lubeck, Germany Univ Zaragoza, Sch Med, Dept Pharmacol, Unit Clin Genet & Funct Genom, E-50009 Zaragoza, Spain

Gener, B.
论文数: 0 引用数: 0
h-index: 0
机构:
Hosp Univ Cruces, BioCruces Hlth Res Inst, Serv Genet, Baracaldo, Spain Univ Zaragoza, Sch Med, Dept Pharmacol, Unit Clin Genet & Funct Genom, E-50009 Zaragoza, Spain

Schwarzmayr, T.
论文数: 0 引用数: 0
h-index: 0
机构:
Helmholtz Zentrum Munchen, Inst Human Genet, Neuherberg, Germany Univ Zaragoza, Sch Med, Dept Pharmacol, Unit Clin Genet & Funct Genom, E-50009 Zaragoza, Spain

Strom, T. M.
论文数: 0 引用数: 0
h-index: 0
机构:
Tech Univ Munich, Inst Human Genet, D-80290 Munich, Germany Univ Zaragoza, Sch Med, Dept Pharmacol, Unit Clin Genet & Funct Genom, E-50009 Zaragoza, Spain

Gomez-Puertas, P.
论文数: 0 引用数: 0
h-index: 0
机构:
Ctr Mol Biol Severo Ochoa CSIC UAM, Mol Modelling Grp, Madrid, Spain Univ Zaragoza, Sch Med, Dept Pharmacol, Unit Clin Genet & Funct Genom, E-50009 Zaragoza, Spain

Puisac, B.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Zaragoza, Sch Med, Dept Pharmacol, Unit Clin Genet & Funct Genom, E-50009 Zaragoza, Spain
Univ Zaragoza, Sch Med, Dept Physiol, Unit Clin Genet & Funct Genom, E-50009 Zaragoza, Spain
Univ Zaragoza, Sch Med, Dept Pediat, Unit Clin Genet & Funct Genom, E-50009 Zaragoza, Spain Univ Zaragoza, Sch Med, Dept Pharmacol, Unit Clin Genet & Funct Genom, E-50009 Zaragoza, Spain

Gillessen-Kaesbach, G.
论文数: 0 引用数: 0
h-index: 0
机构:
Med Univ Lubeck, Inst Humangenet, D-23538 Lubeck, Germany Univ Zaragoza, Sch Med, Dept Pharmacol, Unit Clin Genet & Funct Genom, E-50009 Zaragoza, Spain

Musio, A.
论文数: 0 引用数: 0
h-index: 0
机构:
CNR, Ist Ric Genet & Biomed, I-56100 Pisa, Italy Univ Zaragoza, Sch Med, Dept Pharmacol, Unit Clin Genet & Funct Genom, E-50009 Zaragoza, Spain

Ramos, F. J.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Zaragoza, Sch Med, Dept Pharmacol, Unit Clin Genet & Funct Genom, E-50009 Zaragoza, Spain
Univ Zaragoza, Sch Med, Dept Physiol, Unit Clin Genet & Funct Genom, E-50009 Zaragoza, Spain
Univ Zaragoza, Sch Med, Dept Pediat, Unit Clin Genet & Funct Genom, E-50009 Zaragoza, Spain
Med Univ Lubeck, Inst Humangenet Lubeck, D-23538 Lubeck, Germany Univ Zaragoza, Sch Med, Dept Pharmacol, Unit Clin Genet & Funct Genom, E-50009 Zaragoza, Spain

Kaiser, F. J.
论文数: 0 引用数: 0
h-index: 0
机构:
Med Univ Lubeck, Inst Humangenet Lubeck, D-23538 Lubeck, Germany Univ Zaragoza, Sch Med, Dept Pharmacol, Unit Clin Genet & Funct Genom, E-50009 Zaragoza, Spain

Pie, J.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Zaragoza, Sch Med, Dept Pharmacol, Unit Clin Genet & Funct Genom, E-50009 Zaragoza, Spain
Univ Zaragoza, Sch Med, Dept Physiol, Unit Clin Genet & Funct Genom, E-50009 Zaragoza, Spain
Univ Zaragoza, Sch Med, Dept Pediat, Unit Clin Genet & Funct Genom, E-50009 Zaragoza, Spain Univ Zaragoza, Sch Med, Dept Pharmacol, Unit Clin Genet & Funct Genom, E-50009 Zaragoza, Spain
[3]
NIPBL mutations and genetic heterogeneity in Cornelia de Lange syndrome -: art. no. e128
[J].
Borck, G
;
Redon, R
;
Sanlaville, D
;
Rio, M
;
Prieur, M
;
Lyonnet, S
;
Vekemans, M
;
Carter, NP
;
Munnich, A
;
Colleaux, L
;
Cormier-Daire, V
.
JOURNAL OF MEDICAL GENETICS,
2004, 41 (12)
:e128

Borck, G
论文数: 0 引用数: 0
h-index: 0
机构: Hop Necker Enfants Malad, INSERM, U393, F-75015 Paris, France

Redon, R
论文数: 0 引用数: 0
h-index: 0
机构: Hop Necker Enfants Malad, INSERM, U393, F-75015 Paris, France

Sanlaville, D
论文数: 0 引用数: 0
h-index: 0
机构: Hop Necker Enfants Malad, INSERM, U393, F-75015 Paris, France

Rio, M
论文数: 0 引用数: 0
h-index: 0
机构: Hop Necker Enfants Malad, INSERM, U393, F-75015 Paris, France

Prieur, M
论文数: 0 引用数: 0
h-index: 0
机构: Hop Necker Enfants Malad, INSERM, U393, F-75015 Paris, France

Lyonnet, S
论文数: 0 引用数: 0
h-index: 0
机构: Hop Necker Enfants Malad, INSERM, U393, F-75015 Paris, France

Vekemans, M
论文数: 0 引用数: 0
h-index: 0
机构: Hop Necker Enfants Malad, INSERM, U393, F-75015 Paris, France

Carter, NP
论文数: 0 引用数: 0
h-index: 0
机构: Hop Necker Enfants Malad, INSERM, U393, F-75015 Paris, France

Munnich, A
论文数: 0 引用数: 0
h-index: 0
机构: Hop Necker Enfants Malad, INSERM, U393, F-75015 Paris, France

Colleaux, L
论文数: 0 引用数: 0
h-index: 0
机构: Hop Necker Enfants Malad, INSERM, U393, F-75015 Paris, France

Cormier-Daire, V
论文数: 0 引用数: 0
h-index: 0
机构: Hop Necker Enfants Malad, INSERM, U393, F-75015 Paris, France
[4]
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Braunholz, Diana
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h-index: 0
机构:
Med Univ Lubeck, Sekt Funkt Genet, Inst Humangenet Lubeck, D-23538 Lubeck, Germany Med Univ Lubeck, Sekt Funkt Genet, Inst Humangenet Lubeck, D-23538 Lubeck, Germany

Obieglo, Carolin
论文数: 0 引用数: 0
h-index: 0
机构:
Med Univ Lubeck, Sekt Funkt Genet, Inst Humangenet Lubeck, D-23538 Lubeck, Germany Med Univ Lubeck, Sekt Funkt Genet, Inst Humangenet Lubeck, D-23538 Lubeck, Germany

Parenti, Ilaria
论文数: 0 引用数: 0
h-index: 0
机构:
Med Univ Lubeck, Sekt Funkt Genet, Inst Humangenet Lubeck, D-23538 Lubeck, Germany
Univ Milan, Dept Hlth Sci, Milan, Italy Med Univ Lubeck, Sekt Funkt Genet, Inst Humangenet Lubeck, D-23538 Lubeck, Germany

Pozojevic, Jelena
论文数: 0 引用数: 0
h-index: 0
机构:
Med Univ Lubeck, Sekt Funkt Genet, Inst Humangenet Lubeck, D-23538 Lubeck, Germany Med Univ Lubeck, Sekt Funkt Genet, Inst Humangenet Lubeck, D-23538 Lubeck, Germany

Eckhold, Juliane
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h-index: 0
机构:
Med Univ Lubeck, Sekt Funkt Genet, Inst Humangenet Lubeck, D-23538 Lubeck, Germany Med Univ Lubeck, Sekt Funkt Genet, Inst Humangenet Lubeck, D-23538 Lubeck, Germany

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Braenne, Ingrid
论文数: 0 引用数: 0
h-index: 0
机构:
Med Univ Lubeck, Inst Integrat & Expt Genom, D-23538 Lubeck, Germany Med Univ Lubeck, Sekt Funkt Genet, Inst Humangenet Lubeck, D-23538 Lubeck, Germany

Wendt, Kerstin S.
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h-index: 0
机构:
Erasmus MC, Dept Cell Biol, Rotterdam, Netherlands Med Univ Lubeck, Sekt Funkt Genet, Inst Humangenet Lubeck, D-23538 Lubeck, Germany

Watrin, Erwan
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h-index: 0
机构:
Fac Med, Inst Genet & Dev Rennes, Rennes, France Med Univ Lubeck, Sekt Funkt Genet, Inst Humangenet Lubeck, D-23538 Lubeck, Germany

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Rieder, Harald
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h-index: 0
机构:
Univ Dusseldorf, Inst Humangenet & Anthropol, Dusseldorf, Germany Med Univ Lubeck, Sekt Funkt Genet, Inst Humangenet Lubeck, D-23538 Lubeck, Germany

Gillessen-Kaesbach, Gabriele
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h-index: 0
机构:
Med Univ Lubeck, Inst Humangenet Lubeck, D-23538 Lubeck, Germany Med Univ Lubeck, Sekt Funkt Genet, Inst Humangenet Lubeck, D-23538 Lubeck, Germany

Kaiser, Frank J.
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h-index: 0
机构:
Med Univ Lubeck, Sekt Funkt Genet, Inst Humangenet Lubeck, D-23538 Lubeck, Germany Med Univ Lubeck, Sekt Funkt Genet, Inst Humangenet Lubeck, D-23538 Lubeck, Germany
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Castronovo, P.
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h-index: 0
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Univ Milan, San Paolo Sch Med, Div Med Genet, I-20142 Milan, Italy
Fdn Policlin Mangiagalli & Regina Elena, Milan, Italy Univ Milan, San Paolo Sch Med, Div Med Genet, I-20142 Milan, Italy

Delahaye-Duriez, A.
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h-index: 0
机构:
Hop Jean Verdier, AP HP, Serv Histol Embryol & Cytogenet, Bondy, France
Univ Paris 13, UFR SMBH, Bobigny, France Univ Milan, San Paolo Sch Med, Div Med Genet, I-20142 Milan, Italy

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Azzollini, J.
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h-index: 0
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Univ Milan, San Paolo Sch Med, Div Med Genet, I-20142 Milan, Italy Univ Milan, San Paolo Sch Med, Div Med Genet, I-20142 Milan, Italy

Minier, F.
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h-index: 0
机构:
Univ Paris 13, UFR SMBH, Bobigny, France
Hop Jean Verdier, AP HP, Serv Pediat, Bondy, France Univ Milan, San Paolo Sch Med, Div Med Genet, I-20142 Milan, Italy

Russo, S.
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h-index: 0
机构:
Ist Auxolog Italiano, Mol Genet Lab, Milan, Italy Univ Milan, San Paolo Sch Med, Div Med Genet, I-20142 Milan, Italy

Masciadri, M.
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h-index: 0
机构:
Ist Auxolog Italiano, Mol Genet Lab, Milan, Italy Univ Milan, San Paolo Sch Med, Div Med Genet, I-20142 Milan, Italy

Selicorni, A.
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h-index: 0
机构:
Fdn Policlin Mangiagalli & Regina Elena, Milan, Italy Univ Milan, San Paolo Sch Med, Div Med Genet, I-20142 Milan, Italy

Verloes, A.
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h-index: 0
机构:
Robert Debre Univ Hosp, AP HP, Dept Genet, Inserm U676, Paris, France Univ Milan, San Paolo Sch Med, Div Med Genet, I-20142 Milan, Italy

Larizza, L.
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h-index: 0
机构:
Univ Milan, San Paolo Sch Med, Div Med Genet, I-20142 Milan, Italy
Ist Auxolog Italiano, Mol Genet Lab, Milan, Italy Univ Milan, San Paolo Sch Med, Div Med Genet, I-20142 Milan, Italy
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Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of Cornelia de Lange syndrome with predominant mental retardation
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Deardorff, Matthew A.
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AMERICAN JOURNAL OF HUMAN GENETICS,
2007, 80 (03)
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Deardorff, Matthew A.
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h-index: 0
机构: Childrens Hosp Philadelphia, Div Human & Mol Genet, Abramson Res Ctr 1002, Philadelphia, PA 19104 USA

Kaur, Maninder
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h-index: 0
机构: Childrens Hosp Philadelphia, Div Human & Mol Genet, Abramson Res Ctr 1002, Philadelphia, PA 19104 USA

Yaeger, Dinah
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h-index: 0
机构: Childrens Hosp Philadelphia, Div Human & Mol Genet, Abramson Res Ctr 1002, Philadelphia, PA 19104 USA

Rampuria, Abhinav
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h-index: 0
机构: Childrens Hosp Philadelphia, Div Human & Mol Genet, Abramson Res Ctr 1002, Philadelphia, PA 19104 USA

Korolev, Sergey
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h-index: 0
机构: Childrens Hosp Philadelphia, Div Human & Mol Genet, Abramson Res Ctr 1002, Philadelphia, PA 19104 USA

Pie, Juan
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h-index: 0
机构: Childrens Hosp Philadelphia, Div Human & Mol Genet, Abramson Res Ctr 1002, Philadelphia, PA 19104 USA

Gil-Rodriguez, Concepcion
论文数: 0 引用数: 0
h-index: 0
机构: Childrens Hosp Philadelphia, Div Human & Mol Genet, Abramson Res Ctr 1002, Philadelphia, PA 19104 USA

Arnedo, Maria
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h-index: 0
机构: Childrens Hosp Philadelphia, Div Human & Mol Genet, Abramson Res Ctr 1002, Philadelphia, PA 19104 USA

Loeys, Bart
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h-index: 0
机构: Childrens Hosp Philadelphia, Div Human & Mol Genet, Abramson Res Ctr 1002, Philadelphia, PA 19104 USA

Kline, Antonie D.
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h-index: 0
机构: Childrens Hosp Philadelphia, Div Human & Mol Genet, Abramson Res Ctr 1002, Philadelphia, PA 19104 USA

Wilson, Meredith
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h-index: 0
机构: Childrens Hosp Philadelphia, Div Human & Mol Genet, Abramson Res Ctr 1002, Philadelphia, PA 19104 USA

Lillquist, Kaj
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h-index: 0
机构: Childrens Hosp Philadelphia, Div Human & Mol Genet, Abramson Res Ctr 1002, Philadelphia, PA 19104 USA

Siu, Victoria
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h-index: 0
机构: Childrens Hosp Philadelphia, Div Human & Mol Genet, Abramson Res Ctr 1002, Philadelphia, PA 19104 USA

Ramos, Feliciano J.
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h-index: 0
机构: Childrens Hosp Philadelphia, Div Human & Mol Genet, Abramson Res Ctr 1002, Philadelphia, PA 19104 USA

Musio, Antonio
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h-index: 0
机构: Childrens Hosp Philadelphia, Div Human & Mol Genet, Abramson Res Ctr 1002, Philadelphia, PA 19104 USA

Jackson, Laird S.
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机构: Childrens Hosp Philadelphia, Div Human & Mol Genet, Abramson Res Ctr 1002, Philadelphia, PA 19104 USA

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Krantz, Ian D.
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HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle
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Deardorff, Matthew A.
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Ernst, Sarah
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Francey, Lauren J.
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Hullings, Melanie
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Jaulin, Christian
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Kiyono, Tohru
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Lombardi, Patrick M.
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Magnaghi-Jaulin, Laura
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Mortier, Geert R.
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Nozaki, Naohito
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Petersen, Michael B.
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Seimiya, Hiroyuki
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Siu, Victoria M.
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Suzuki, Yutaka
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Takagaki, Kentaro
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Wilde, Jonathan J.
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Willems, Patrick J.
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Prigent, Claude
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Gillessen-Kaesbach, Gabriele
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Christianson, David W.
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NATURE,
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Deardorff, Matthew A.
论文数: 0 引用数: 0
h-index: 0
机构:
Childrens Hosp Philadelphia, Div Human Genet & Mol Biol, Philadelphia, PA 19104 USA
Univ Penn, Perelman Sch Med, Dept Pediat, Philadelphia, PA 19104 USA Childrens Hosp Philadelphia, Div Human Genet & Mol Biol, Philadelphia, PA 19104 USA

Bando, Masashige
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Tokyo, Inst Mol & Cellular Biosci, Res Ctr Epigenet Dis, Tokyo 1130032, Japan Childrens Hosp Philadelphia, Div Human Genet & Mol Biol, Philadelphia, PA 19104 USA

Nakato, Ryuichiro
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Tokyo, Inst Mol & Cellular Biosci, Res Ctr Epigenet Dis, Tokyo 1130032, Japan Childrens Hosp Philadelphia, Div Human Genet & Mol Biol, Philadelphia, PA 19104 USA

Watrin, Erwan
论文数: 0 引用数: 0
h-index: 0
机构:
Fac Med, Ctr Natl Rech Sci CNRS, Res Inst Genet & Dev IGDR, F-35043 Rennes, France Childrens Hosp Philadelphia, Div Human Genet & Mol Biol, Philadelphia, PA 19104 USA

论文数: 引用数:
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Minamino, Masashi
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Tokyo, Inst Mol & Cellular Biosci, Res Ctr Epigenet Dis, Tokyo 1130032, Japan Childrens Hosp Philadelphia, Div Human Genet & Mol Biol, Philadelphia, PA 19104 USA

Saitoh, Katsuya
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Tokyo, Inst Mol & Cellular Biosci, Res Ctr Epigenet Dis, Tokyo 1130032, Japan Childrens Hosp Philadelphia, Div Human Genet & Mol Biol, Philadelphia, PA 19104 USA

Komata, Makiko
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Tokyo, Inst Mol & Cellular Biosci, Res Ctr Epigenet Dis, Tokyo 1130032, Japan Childrens Hosp Philadelphia, Div Human Genet & Mol Biol, Philadelphia, PA 19104 USA

Katou, Yuki
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Tokyo, Inst Mol & Cellular Biosci, Res Ctr Epigenet Dis, Tokyo 1130032, Japan Childrens Hosp Philadelphia, Div Human Genet & Mol Biol, Philadelphia, PA 19104 USA

Clark, Dinah
论文数: 0 引用数: 0
h-index: 0
机构:
Childrens Hosp Philadelphia, Div Human Genet & Mol Biol, Philadelphia, PA 19104 USA Childrens Hosp Philadelphia, Div Human Genet & Mol Biol, Philadelphia, PA 19104 USA

Cole, Kathryn E.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Penn, Dept Chem, Philadelphia, PA 19104 USA Childrens Hosp Philadelphia, Div Human Genet & Mol Biol, Philadelphia, PA 19104 USA

论文数: 引用数:
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机构:

Decroos, Christophe
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Penn, Dept Chem, Philadelphia, PA 19104 USA Childrens Hosp Philadelphia, Div Human Genet & Mol Biol, Philadelphia, PA 19104 USA

论文数: 引用数:
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机构:

Ernst, Sarah
论文数: 0 引用数: 0
h-index: 0
机构:
Childrens Hosp Philadelphia, Div Human Genet & Mol Biol, Philadelphia, PA 19104 USA Childrens Hosp Philadelphia, Div Human Genet & Mol Biol, Philadelphia, PA 19104 USA

Francey, Lauren J.
论文数: 0 引用数: 0
h-index: 0
机构:
Childrens Hosp Philadelphia, Div Human Genet & Mol Biol, Philadelphia, PA 19104 USA Childrens Hosp Philadelphia, Div Human Genet & Mol Biol, Philadelphia, PA 19104 USA

Gyftodimou, Yolanda
论文数: 0 引用数: 0
h-index: 0
机构:
Inst Child Hlth, Dept Genet, Athens 11527, Greece Childrens Hosp Philadelphia, Div Human Genet & Mol Biol, Philadelphia, PA 19104 USA

Hirashima, Kyotaro
论文数: 0 引用数: 0
h-index: 0
机构:
Japanese Fdn Canc Res, Div Mol Biotherapy, Tokyo 1358550, Japan Childrens Hosp Philadelphia, Div Human Genet & Mol Biol, Philadelphia, PA 19104 USA

Hullings, Melanie
论文数: 0 引用数: 0
h-index: 0
机构:
Childrens Hosp Philadelphia, Div Human Genet & Mol Biol, Philadelphia, PA 19104 USA Childrens Hosp Philadelphia, Div Human Genet & Mol Biol, Philadelphia, PA 19104 USA

Ishikawa, Yuuichi
论文数: 0 引用数: 0
h-index: 0
机构:
Japanese Fdn Canc Res, Dept Pathol, Tokyo 1358550, Japan Childrens Hosp Philadelphia, Div Human Genet & Mol Biol, Philadelphia, PA 19104 USA

Jaulin, Christian
论文数: 0 引用数: 0
h-index: 0
机构:
Fac Med, Ctr Natl Rech Sci CNRS, Res Inst Genet & Dev IGDR, F-35043 Rennes, France Childrens Hosp Philadelphia, Div Human Genet & Mol Biol, Philadelphia, PA 19104 USA

Kaur, Maninder
论文数: 0 引用数: 0
h-index: 0
机构:
Childrens Hosp Philadelphia, Div Human Genet & Mol Biol, Philadelphia, PA 19104 USA Childrens Hosp Philadelphia, Div Human Genet & Mol Biol, Philadelphia, PA 19104 USA

Kiyono, Tohru
论文数: 0 引用数: 0
h-index: 0
机构:
Natl Canc Ctr, Res Inst, Div Virol, Tokyo 1040045, Japan Childrens Hosp Philadelphia, Div Human Genet & Mol Biol, Philadelphia, PA 19104 USA

Lombardi, Patrick M.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Penn, Dept Chem, Philadelphia, PA 19104 USA Childrens Hosp Philadelphia, Div Human Genet & Mol Biol, Philadelphia, PA 19104 USA

Magnaghi-Jaulin, Laura
论文数: 0 引用数: 0
h-index: 0
机构:
Fac Med, Ctr Natl Rech Sci CNRS, Res Inst Genet & Dev IGDR, F-35043 Rennes, France Childrens Hosp Philadelphia, Div Human Genet & Mol Biol, Philadelphia, PA 19104 USA

Mortier, Geert R.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Antwerp Hosp, Dept Med Genet, B-2650 Antwerp, Belgium
Univ Antwerp, B-2650 Antwerp, Belgium Childrens Hosp Philadelphia, Div Human Genet & Mol Biol, Philadelphia, PA 19104 USA

Nozaki, Naohito
论文数: 0 引用数: 0
h-index: 0
机构:
Tokyo Inst Technol, Biofrontier Res Ctr, Yokohama, Kanagawa 2268503, Japan Childrens Hosp Philadelphia, Div Human Genet & Mol Biol, Philadelphia, PA 19104 USA

Petersen, Michael B.
论文数: 0 引用数: 0
h-index: 0
机构:
Inst Child Hlth, Dept Genet, Athens 11527, Greece
Aarhus Univ Hosp, Aalborg Hosp, Dept Clin Genet, DK-9100 Aalborg, Denmark Childrens Hosp Philadelphia, Div Human Genet & Mol Biol, Philadelphia, PA 19104 USA

Seimiya, Hiroyuki
论文数: 0 引用数: 0
h-index: 0
机构:
Japanese Fdn Canc Res, Div Mol Biotherapy, Tokyo 1358550, Japan Childrens Hosp Philadelphia, Div Human Genet & Mol Biol, Philadelphia, PA 19104 USA

Siu, Victoria M.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Western Ontario, London, ON N6A 5W9, Canada Childrens Hosp Philadelphia, Div Human Genet & Mol Biol, Philadelphia, PA 19104 USA

Suzuki, Yutaka
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Tokyo, Grad Sch Frontier Sci, Tokyo 2778561, Japan Childrens Hosp Philadelphia, Div Human Genet & Mol Biol, Philadelphia, PA 19104 USA

Takagaki, Kentaro
论文数: 0 引用数: 0
h-index: 0
机构: Childrens Hosp Philadelphia, Div Human Genet & Mol Biol, Philadelphia, PA 19104 USA

Wilde, Jonathan J.
论文数: 0 引用数: 0
h-index: 0
机构:
Childrens Hosp Philadelphia, Div Human Genet & Mol Biol, Philadelphia, PA 19104 USA Childrens Hosp Philadelphia, Div Human Genet & Mol Biol, Philadelphia, PA 19104 USA

Willems, Patrick J.
论文数: 0 引用数: 0
h-index: 0
机构:
GENDIA, B-2020 Antwerp, Belgium Childrens Hosp Philadelphia, Div Human Genet & Mol Biol, Philadelphia, PA 19104 USA

Prigent, Claude
论文数: 0 引用数: 0
h-index: 0
机构:
Fac Med, Ctr Natl Rech Sci CNRS, Res Inst Genet & Dev IGDR, F-35043 Rennes, France Childrens Hosp Philadelphia, Div Human Genet & Mol Biol, Philadelphia, PA 19104 USA

Gillessen-Kaesbach, Gabriele
论文数: 0 引用数: 0
h-index: 0
机构:
Med Univ Lubeck, Inst Humangenet Lubeck, D-23538 Lubeck, Germany Childrens Hosp Philadelphia, Div Human Genet & Mol Biol, Philadelphia, PA 19104 USA

Christianson, David W.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Penn, Dept Chem, Philadelphia, PA 19104 USA Childrens Hosp Philadelphia, Div Human Genet & Mol Biol, Philadelphia, PA 19104 USA

Kaiser, Frank J.
论文数: 0 引用数: 0
h-index: 0
机构:
Med Univ Lubeck, Inst Humangenet Lubeck, D-23538 Lubeck, Germany Childrens Hosp Philadelphia, Div Human Genet & Mol Biol, Philadelphia, PA 19104 USA

Jackson, Laird G.
论文数: 0 引用数: 0
h-index: 0
机构:
Childrens Hosp Philadelphia, Div Human Genet & Mol Biol, Philadelphia, PA 19104 USA
Drexel Univ, Sch Med, Dept Obstet & Gynecol, Philadelphia, PA 19102 USA Childrens Hosp Philadelphia, Div Human Genet & Mol Biol, Philadelphia, PA 19104 USA

Hirota, Toru
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Tokyo, Grad Sch Frontier Sci, Tokyo 2778561, Japan Childrens Hosp Philadelphia, Div Human Genet & Mol Biol, Philadelphia, PA 19104 USA

Krantz, Ian D.
论文数: 0 引用数: 0
h-index: 0
机构:
Childrens Hosp Philadelphia, Div Human Genet & Mol Biol, Philadelphia, PA 19104 USA
Univ Penn, Perelman Sch Med, Dept Pediat, Philadelphia, PA 19104 USA Childrens Hosp Philadelphia, Div Human Genet & Mol Biol, Philadelphia, PA 19104 USA

Shirahige, Katsuhiko
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Tokyo, Inst Mol & Cellular Biosci, Res Ctr Epigenet Dis, Tokyo 1130032, Japan
JST, CREST, Chiyoda Ku, Tokyo 1020076, Japan Childrens Hosp Philadelphia, Div Human Genet & Mol Biol, Philadelphia, PA 19104 USA
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RAD21 Mutations Cause a Human Cohesinopathy
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Deardorff, Matthew A.
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Concepcion Gil-Rodriguez, Maria
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Clark, Dinah
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Hakonarson, Hakon
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Halbach, Sara
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Michelis, Laura Daniela
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Gillessen-Kaesbach, Gabriele
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2012, 90 (06)
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Deardorff, Matthew A.
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h-index: 0
机构:
Childrens Hosp Philadelphia, Div Genet, Philadelphia, PA 19104 USA
Univ Penn, Perelman Sch Med, Philadelphia, PA 19104 USA Childrens Hosp Philadelphia, Div Genet, Philadelphia, PA 19104 USA

Wilde, Jonathan J.
论文数: 0 引用数: 0
h-index: 0
机构:
Childrens Hosp Philadelphia, Div Genet, Philadelphia, PA 19104 USA Childrens Hosp Philadelphia, Div Genet, Philadelphia, PA 19104 USA

Albrecht, Melanie
论文数: 0 引用数: 0
h-index: 0
机构:
Med Univ Lubeck, Inst Humangenet Lubeck, D-23538 Lubeck, Germany Childrens Hosp Philadelphia, Div Genet, Philadelphia, PA 19104 USA

Dickinson, Emma
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Otago, Dunedin Sch Med, Dept Pathol, Dunedin 9054, New Zealand Childrens Hosp Philadelphia, Div Genet, Philadelphia, PA 19104 USA

Tennstedt, Stephanie
论文数: 0 引用数: 0
h-index: 0
机构:
Med Univ Lubeck, Med Klin 2, D-23538 Lubeck, Germany Childrens Hosp Philadelphia, Div Genet, Philadelphia, PA 19104 USA

Braunholz, Diana
论文数: 0 引用数: 0
h-index: 0
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Med Univ Lubeck, Inst Humangenet Lubeck, D-23538 Lubeck, Germany Childrens Hosp Philadelphia, Div Genet, Philadelphia, PA 19104 USA

Moennich, Maren
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h-index: 0
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Univ Otago, Dunedin Sch Med, Dept Pathol, Dunedin 9054, New Zealand Childrens Hosp Philadelphia, Div Genet, Philadelphia, PA 19104 USA

Yan, Yuqian
论文数: 0 引用数: 0
h-index: 0
机构:
Peter MacCallum Canc Ctr, Div Res, Melbourne, Vic 3002, Australia Childrens Hosp Philadelphia, Div Genet, Philadelphia, PA 19104 USA

Xu, Weizhen
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h-index: 0
机构:
Med Univ Lubeck, Inst Humangenet Lubeck, D-23538 Lubeck, Germany
Zhejiang Canc Res Inst, Hangzhou 310058, Zhejiang, Peoples R China Childrens Hosp Philadelphia, Div Genet, Philadelphia, PA 19104 USA

Concepcion Gil-Rodriguez, Maria
论文数: 0 引用数: 0
h-index: 0
机构:
Med Univ Lubeck, Inst Humangenet Lubeck, D-23538 Lubeck, Germany
Univ Zaragoza, Sch Med, Unit Clin Genet & Funct Genom, E-50009 Zaragoza, Spain Childrens Hosp Philadelphia, Div Genet, Philadelphia, PA 19104 USA

Clark, Dinah
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h-index: 0
机构:
Childrens Hosp Philadelphia, Div Genet, Philadelphia, PA 19104 USA Childrens Hosp Philadelphia, Div Genet, Philadelphia, PA 19104 USA

Hakonarson, Hakon
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h-index: 0
机构:
Childrens Hosp Philadelphia, Div Genet, Philadelphia, PA 19104 USA
Univ Penn, Perelman Sch Med, Philadelphia, PA 19104 USA
Childrens Hosp Philadelphia, Ctr Appl Genom, Philadelphia, PA 19104 USA Childrens Hosp Philadelphia, Div Genet, Philadelphia, PA 19104 USA

Halbach, Sara
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Chicago, Dept Human Genet, Chicago, IL 60637 USA Childrens Hosp Philadelphia, Div Genet, Philadelphia, PA 19104 USA

Michelis, Laura Daniela
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h-index: 0
机构:
Childrens Hosp Philadelphia, Div Genet, Philadelphia, PA 19104 USA Childrens Hosp Philadelphia, Div Genet, Philadelphia, PA 19104 USA

Rampuria, Abhinav
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h-index: 0
机构:
Childrens Hosp Philadelphia, Div Genet, Philadelphia, PA 19104 USA Childrens Hosp Philadelphia, Div Genet, Philadelphia, PA 19104 USA

Rossier, Eva
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h-index: 0
机构:
Genetikum, D-70174 Stuttgart, Germany Childrens Hosp Philadelphia, Div Genet, Philadelphia, PA 19104 USA

Spranger, Stephanie
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h-index: 0
机构:
Praxis Humangenet, D-28205 Bremen, Germany Childrens Hosp Philadelphia, Div Genet, Philadelphia, PA 19104 USA

Van Maldergem, Lionel
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Franche Comte, Ctr Genet Humaine, F-25030 Besancon, France Childrens Hosp Philadelphia, Div Genet, Philadelphia, PA 19104 USA

Lynch, Sally Ann
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h-index: 0
机构:
Our Ladys Childrens Hosp, Natl Ctr Med Genet, Dublin 12, Ireland Childrens Hosp Philadelphia, Div Genet, Philadelphia, PA 19104 USA

Gillessen-Kaesbach, Gabriele
论文数: 0 引用数: 0
h-index: 0
机构:
Med Univ Lubeck, Inst Humangenet Lubeck, D-23538 Lubeck, Germany Childrens Hosp Philadelphia, Div Genet, Philadelphia, PA 19104 USA

Luedecke, Hermann-Josef
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Duisburg Essen, Inst Human Genet, D-45122 Essen, Germany Childrens Hosp Philadelphia, Div Genet, Philadelphia, PA 19104 USA

Ramsay, Robert G.
论文数: 0 引用数: 0
h-index: 0
机构:
Peter MacCallum Canc Ctr, Div Res, Melbourne, Vic 3002, Australia
Univ Melbourne, Sir Peter MacCallum Dept Oncol, Fac Med & Dent Sci, Parkville, Vic 3000, Australia
Univ Melbourne, Fac Med & Dent Sci, Dept Pathol, Parkville, Vic 3000, Australia Childrens Hosp Philadelphia, Div Genet, Philadelphia, PA 19104 USA

McKay, Michael J.
论文数: 0 引用数: 0
h-index: 0
机构:
N Coast Canc Inst, Lismore, NSW 2480, Australia
Univ Sydney, Sch Med, Sydney, NSW 2006, Australia Childrens Hosp Philadelphia, Div Genet, Philadelphia, PA 19104 USA

Krantz, Ian D.
论文数: 0 引用数: 0
h-index: 0
机构:
Childrens Hosp Philadelphia, Div Genet, Philadelphia, PA 19104 USA
Univ Penn, Perelman Sch Med, Philadelphia, PA 19104 USA Childrens Hosp Philadelphia, Div Genet, Philadelphia, PA 19104 USA

Xu, Huiling
论文数: 0 引用数: 0
h-index: 0
机构:
Peter MacCallum Canc Ctr, Div Res, Melbourne, Vic 3002, Australia
Univ Melbourne, Sir Peter MacCallum Dept Oncol, Fac Med & Dent Sci, Parkville, Vic 3000, Australia
Univ Melbourne, Fac Med & Dent Sci, Dept Pathol, Parkville, Vic 3000, Australia Childrens Hosp Philadelphia, Div Genet, Philadelphia, PA 19104 USA

Horsfield, Julia A.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Otago, Dunedin Sch Med, Dept Pathol, Dunedin 9054, New Zealand Childrens Hosp Philadelphia, Div Genet, Philadelphia, PA 19104 USA

Kaiser, Frank J.
论文数: 0 引用数: 0
h-index: 0
机构:
Med Univ Lubeck, Inst Humangenet Lubeck, D-23538 Lubeck, Germany Childrens Hosp Philadelphia, Div Genet, Philadelphia, PA 19104 USA
[9]
Molecular characterization of a mosaic NIPBL deletion in a Cornelia de Lange patient with severe phenotype
[J].
Gervasini, Cristina
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Parenti, Ilaria
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Picinelli, Chiara
;
Azzollini, Jacopo
;
Masciadri, Maura
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Cereda, Anna
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Selicorni, Angelo
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Russo, Silvia
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Larizza, Lidia
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EUROPEAN JOURNAL OF MEDICAL GENETICS,
2013, 56 (03)
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论文数: 引用数:
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机构:

Parenti, Ilaria
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Milan, Dept Hlth Sci, I-20142 Milan, Italy Univ Milan, Dept Hlth Sci, I-20142 Milan, Italy

Picinelli, Chiara
论文数: 0 引用数: 0
h-index: 0
机构:
Ist Auxol Italiano, Lab Med Cytogenet & Mol Genet, Milan, Italy Univ Milan, Dept Hlth Sci, I-20142 Milan, Italy

Azzollini, Jacopo
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Milan, Dept Hlth Sci, I-20142 Milan, Italy Univ Milan, Dept Hlth Sci, I-20142 Milan, Italy

Masciadri, Maura
论文数: 0 引用数: 0
h-index: 0
机构:
Ist Auxol Italiano, Lab Med Cytogenet & Mol Genet, Milan, Italy Univ Milan, Dept Hlth Sci, I-20142 Milan, Italy

Cereda, Anna
论文数: 0 引用数: 0
h-index: 0
机构:
S Gerardo Hosp, Fdn MBBM, Dept Pediat, Monza, Italy Univ Milan, Dept Hlth Sci, I-20142 Milan, Italy

Selicorni, Angelo
论文数: 0 引用数: 0
h-index: 0
机构:
S Gerardo Hosp, Fdn MBBM, Dept Pediat, Monza, Italy Univ Milan, Dept Hlth Sci, I-20142 Milan, Italy

Russo, Silvia
论文数: 0 引用数: 0
h-index: 0
机构:
Ist Auxol Italiano, Lab Med Cytogenet & Mol Genet, Milan, Italy Univ Milan, Dept Hlth Sci, I-20142 Milan, Italy

论文数: 引用数:
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Larizza, Lidia
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Milan, Dept Hlth Sci, I-20142 Milan, Italy
Ist Auxol Italiano, Lab Med Cytogenet & Mol Genet, Milan, Italy Univ Milan, Dept Hlth Sci, I-20142 Milan, Italy
[10]
NIPBL mutational analysis in 120 individuals with Cornelia de Lange syndrome and evaluation of genotype-phenotype correlations
[J].
Gillis, LA
;
McCallum, J
;
Kaur, M
;
DeScipio, C
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Yaeger, D
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Mariani, A
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Kline, AD
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Li, HH
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Devoto, M
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Jackson, LG
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Krantz, ID
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AMERICAN JOURNAL OF HUMAN GENETICS,
2004, 75 (04)
:610-623

Gillis, LA
论文数: 0 引用数: 0
h-index: 0
机构: Childrens Hosp Philadelphia, Div Human & Mol Genet, Abramson Res Ctr 1002, Philadelphia, PA 19104 USA

McCallum, J
论文数: 0 引用数: 0
h-index: 0
机构: Childrens Hosp Philadelphia, Div Human & Mol Genet, Abramson Res Ctr 1002, Philadelphia, PA 19104 USA

Kaur, M
论文数: 0 引用数: 0
h-index: 0
机构: Childrens Hosp Philadelphia, Div Human & Mol Genet, Abramson Res Ctr 1002, Philadelphia, PA 19104 USA

DeScipio, C
论文数: 0 引用数: 0
h-index: 0
机构: Childrens Hosp Philadelphia, Div Human & Mol Genet, Abramson Res Ctr 1002, Philadelphia, PA 19104 USA

Yaeger, D
论文数: 0 引用数: 0
h-index: 0
机构: Childrens Hosp Philadelphia, Div Human & Mol Genet, Abramson Res Ctr 1002, Philadelphia, PA 19104 USA

Mariani, A
论文数: 0 引用数: 0
h-index: 0
机构: Childrens Hosp Philadelphia, Div Human & Mol Genet, Abramson Res Ctr 1002, Philadelphia, PA 19104 USA

Kline, AD
论文数: 0 引用数: 0
h-index: 0
机构: Childrens Hosp Philadelphia, Div Human & Mol Genet, Abramson Res Ctr 1002, Philadelphia, PA 19104 USA

Li, HH
论文数: 0 引用数: 0
h-index: 0
机构: Childrens Hosp Philadelphia, Div Human & Mol Genet, Abramson Res Ctr 1002, Philadelphia, PA 19104 USA

Devoto, M
论文数: 0 引用数: 0
h-index: 0
机构: Childrens Hosp Philadelphia, Div Human & Mol Genet, Abramson Res Ctr 1002, Philadelphia, PA 19104 USA

Jackson, LG
论文数: 0 引用数: 0
h-index: 0
机构: Childrens Hosp Philadelphia, Div Human & Mol Genet, Abramson Res Ctr 1002, Philadelphia, PA 19104 USA

Krantz, ID
论文数: 0 引用数: 0
h-index: 0
机构: Childrens Hosp Philadelphia, Div Human & Mol Genet, Abramson Res Ctr 1002, Philadelphia, PA 19104 USA