共 81 条
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Seckel syndrome exhibits cellular features demonstrating defects in the ATR-signalling pathway
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Alderton, GK
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Joenje, H
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Borglum, AD
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HUMAN MOLECULAR GENETICS,
2004, 13 (24)
:3127-3138

Alderton, GK
论文数: 0 引用数: 0
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机构: Univ Sussex, Genome Damage & Stabil Ctr, Brighton BN1 9RQ, E Sussex, England

Joenje, H
论文数: 0 引用数: 0
h-index: 0
机构: Univ Sussex, Genome Damage & Stabil Ctr, Brighton BN1 9RQ, E Sussex, England

Varon, R
论文数: 0 引用数: 0
h-index: 0
机构: Univ Sussex, Genome Damage & Stabil Ctr, Brighton BN1 9RQ, E Sussex, England

Borglum, AD
论文数: 0 引用数: 0
h-index: 0
机构: Univ Sussex, Genome Damage & Stabil Ctr, Brighton BN1 9RQ, E Sussex, England

Jeggo, PA
论文数: 0 引用数: 0
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机构:
Univ Sussex, Genome Damage & Stabil Ctr, Brighton BN1 9RQ, E Sussex, England Univ Sussex, Genome Damage & Stabil Ctr, Brighton BN1 9RQ, E Sussex, England

O'Driscoll, M
论文数: 0 引用数: 0
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机构: Univ Sussex, Genome Damage & Stabil Ctr, Brighton BN1 9RQ, E Sussex, England
[2]
[Anonymous], COLD SPRING HARB PER
[3]
ATM and ATR signaling at a glance (vol 128, pg 4255, 2015)
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JOURNAL OF CELL SCIENCE,
2016, 129 (06)
:1285-1285

Awasthi, Poorwa
论文数: 0 引用数: 0
h-index: 0

Foiani, Marco
论文数: 0 引用数: 0
h-index: 0

Kumar, Amit
论文数: 0 引用数: 0
h-index: 0
[4]
GENETIC-CONTROLS OF MEIOTIC RECOMBINATION AND SOMATIC DNA METABOLISM IN DROSOPHILA-MELANOGASTER
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BAKER, BS
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BOYD, JB
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CARPENTER, ATC
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GREEN, MM
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NGUYEN, TD
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RIPOLL, P
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SMITH, PD
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PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA,
1976, 73 (11)
:4140-4144

BAKER, BS
论文数: 0 引用数: 0
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机构: UNIV CALIF SAN DIEGO,DEPT BIOL,LA JOLLA,CA 92093

BOYD, JB
论文数: 0 引用数: 0
h-index: 0
机构: UNIV CALIF SAN DIEGO,DEPT BIOL,LA JOLLA,CA 92093

CARPENTER, ATC
论文数: 0 引用数: 0
h-index: 0
机构: UNIV CALIF SAN DIEGO,DEPT BIOL,LA JOLLA,CA 92093

GREEN, MM
论文数: 0 引用数: 0
h-index: 0
机构: UNIV CALIF SAN DIEGO,DEPT BIOL,LA JOLLA,CA 92093

NGUYEN, TD
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h-index: 0
机构: UNIV CALIF SAN DIEGO,DEPT BIOL,LA JOLLA,CA 92093

RIPOLL, P
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h-index: 0
机构: UNIV CALIF SAN DIEGO,DEPT BIOL,LA JOLLA,CA 92093

SMITH, PD
论文数: 0 引用数: 0
h-index: 0
机构: UNIV CALIF SAN DIEGO,DEPT BIOL,LA JOLLA,CA 92093
[5]
Hypomorphic PCNA mutation underlies a human DNA repair disorder
[J].
Baple, Emma L.
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Chambers, Helen
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Cross, Harold E.
;
Fawcett, Heather
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Nakazawa, Yuka
;
Chioza, Barry A.
;
Harlalka, Gaurav V.
;
Mansour, Sahar
;
Sreekantan-Nair, Ajith
;
Patton, Michael A.
;
Muggenthaler, Martina
;
Rich, Phillip
;
Wagner, Karin
;
Coblentz, Roselyn
;
Stein, Constance K.
;
Last, James I.
;
Taylor, A. Malcolm R.
;
Jackson, Andrew P.
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Ogi, Tomoo
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Lehmann, Alan R.
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Green, Catherine M.
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Crosby, Andrew H.
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JOURNAL OF CLINICAL INVESTIGATION,
2014, 124 (07)
:3137-3146

Baple, Emma L.
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机构:
Univ Exeter, Sch Med, RILD Wellcome Wolfson Ctr, Exeter, Devon, England Univ Exeter, Sch Med, RILD Wellcome Wolfson Ctr, Exeter, Devon, England

Chambers, Helen
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机构:
Univ Cambridge, Dept Zool, Cambridge, England Univ Exeter, Sch Med, RILD Wellcome Wolfson Ctr, Exeter, Devon, England

Cross, Harold E.
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机构:
Univ Arizona, Coll Med, Dept Ophthalmol, Tucson, AZ USA Univ Exeter, Sch Med, RILD Wellcome Wolfson Ctr, Exeter, Devon, England

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Chioza, Barry A.
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机构:
Univ Exeter, Sch Med, RILD Wellcome Wolfson Ctr, Exeter, Devon, England Univ Exeter, Sch Med, RILD Wellcome Wolfson Ctr, Exeter, Devon, England

Harlalka, Gaurav V.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Exeter, Sch Med, RILD Wellcome Wolfson Ctr, Exeter, Devon, England Univ Exeter, Sch Med, RILD Wellcome Wolfson Ctr, Exeter, Devon, England

Mansour, Sahar
论文数: 0 引用数: 0
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机构:
St Georges Healthcare NHS Trust, SW Thames Reg Genet Serv, London, England Univ Exeter, Sch Med, RILD Wellcome Wolfson Ctr, Exeter, Devon, England

Sreekantan-Nair, Ajith
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机构:
Univ Exeter, Sch Med, RILD Wellcome Wolfson Ctr, Exeter, Devon, England Univ Exeter, Sch Med, RILD Wellcome Wolfson Ctr, Exeter, Devon, England

Patton, Michael A.
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机构:
Univ Exeter, Sch Med, RILD Wellcome Wolfson Ctr, Exeter, Devon, England Univ Exeter, Sch Med, RILD Wellcome Wolfson Ctr, Exeter, Devon, England

Muggenthaler, Martina
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机构:
Univ Exeter, Sch Med, RILD Wellcome Wolfson Ctr, Exeter, Devon, England Univ Exeter, Sch Med, RILD Wellcome Wolfson Ctr, Exeter, Devon, England

Rich, Phillip
论文数: 0 引用数: 0
h-index: 0
机构:
St George Hosp, Dept Neuroradiol, London, England Univ Exeter, Sch Med, RILD Wellcome Wolfson Ctr, Exeter, Devon, England

Wagner, Karin
论文数: 0 引用数: 0
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机构:
Windows Hope Genet Study, Walnut Creek, OH USA Univ Exeter, Sch Med, RILD Wellcome Wolfson Ctr, Exeter, Devon, England

Coblentz, Roselyn
论文数: 0 引用数: 0
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机构:
Windows Hope Genet Study, Walnut Creek, OH USA Univ Exeter, Sch Med, RILD Wellcome Wolfson Ctr, Exeter, Devon, England

Stein, Constance K.
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机构:
SUNY Upstate Med Univ, Syracuse, NY 13210 USA Univ Exeter, Sch Med, RILD Wellcome Wolfson Ctr, Exeter, Devon, England

Last, James I.
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机构:
Univ Birmingham, Coll Med & Dent Sci, Sch Canc Sci, Birmingham, W Midlands, England Univ Exeter, Sch Med, RILD Wellcome Wolfson Ctr, Exeter, Devon, England

Taylor, A. Malcolm R.
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机构:
Univ Birmingham, Coll Med & Dent Sci, Sch Canc Sci, Birmingham, W Midlands, England Univ Exeter, Sch Med, RILD Wellcome Wolfson Ctr, Exeter, Devon, England

Jackson, Andrew P.
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机构:
Univ Edinburgh, Human Genet Unit, Inst Genet & Mol Med, MRC, Edinburgh EH8 9YL, Midlothian, Scotland Univ Exeter, Sch Med, RILD Wellcome Wolfson Ctr, Exeter, Devon, England

Ogi, Tomoo
论文数: 0 引用数: 0
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机构:
Nagasaki Univ, Res Ctr Genom Instabil & Carcinogenesis NRGIC, Nagasaki 852, Japan
Nagasaki Univ, Atom Bomb Dis Inst, Dept Mol Med, Nagasaki 852, Japan Univ Exeter, Sch Med, RILD Wellcome Wolfson Ctr, Exeter, Devon, England

Lehmann, Alan R.
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机构:
Univ Sussex, Genome Damage & Stabil Ctr, Brighton, E Sussex, England Univ Exeter, Sch Med, RILD Wellcome Wolfson Ctr, Exeter, Devon, England

Green, Catherine M.
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h-index: 0
机构:
Univ Cambridge, Dept Zool, Cambridge, England
Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford, England Univ Exeter, Sch Med, RILD Wellcome Wolfson Ctr, Exeter, Devon, England

Crosby, Andrew H.
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机构:
Univ Exeter, Sch Med, RILD Wellcome Wolfson Ctr, Exeter, Devon, England Univ Exeter, Sch Med, RILD Wellcome Wolfson Ctr, Exeter, Devon, England
[6]
Mutations in the pre-replication complex cause Meier-Gorlin syndrome
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Bicknell, Louise S.
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Bongers, Ernie M. H. F.
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Leitch, Andrea
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Brown, Stephen
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Schoots, Jeroen
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Harley, Margaret E.
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Aftimos, Salim
;
Al-Aama, Jumana Y.
;
Bober, Michael
;
Brown, Paul A. J.
;
van Bokhoven, Hans
;
Dean, John
;
Edrees, Alaa Y.
;
Feingold, Murray
;
Fryer, Alan
;
Hoefsloot, Lies H.
;
Kau, Nikolaus
;
Knoers, Nine V. A. M.
;
MacKenzie, James
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Opitz, John M.
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Sarda, Pierre
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Ross, Alison
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Temple, I. Karen
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Toutain, Annick
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Wise, Carol A.
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Wright, Michael
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Jackson, Andrew P.
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NATURE GENETICS,
2011, 43 (04)
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Bicknell, Louise S.
论文数: 0 引用数: 0
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机构:
Western Gen Hosp, MRC, HGU, Inst Genet & Mol Med, Edinburgh EH4 2XU, Midlothian, Scotland Western Gen Hosp, MRC, HGU, Inst Genet & Mol Med, Edinburgh EH4 2XU, Midlothian, Scotland

Bongers, Ernie M. H. F.
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机构:
Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Inst Genet & Metab Dis, NL-6525 ED Nijmegen, Netherlands Western Gen Hosp, MRC, HGU, Inst Genet & Mol Med, Edinburgh EH4 2XU, Midlothian, Scotland

Leitch, Andrea
论文数: 0 引用数: 0
h-index: 0
机构:
Western Gen Hosp, MRC, HGU, Inst Genet & Mol Med, Edinburgh EH4 2XU, Midlothian, Scotland Western Gen Hosp, MRC, HGU, Inst Genet & Mol Med, Edinburgh EH4 2XU, Midlothian, Scotland

Brown, Stephen
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机构:
Western Gen Hosp, MRC, HGU, Inst Genet & Mol Med, Edinburgh EH4 2XU, Midlothian, Scotland Western Gen Hosp, MRC, HGU, Inst Genet & Mol Med, Edinburgh EH4 2XU, Midlothian, Scotland

Schoots, Jeroen
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机构:
Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Inst Genet & Metab Dis, NL-6525 ED Nijmegen, Netherlands Western Gen Hosp, MRC, HGU, Inst Genet & Mol Med, Edinburgh EH4 2XU, Midlothian, Scotland

Harley, Margaret E.
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机构:
Western Gen Hosp, MRC, HGU, Inst Genet & Mol Med, Edinburgh EH4 2XU, Midlothian, Scotland Western Gen Hosp, MRC, HGU, Inst Genet & Mol Med, Edinburgh EH4 2XU, Midlothian, Scotland

Aftimos, Salim
论文数: 0 引用数: 0
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机构:
Auckland Hosp, No Reg Genet Serv, Auckland, New Zealand Western Gen Hosp, MRC, HGU, Inst Genet & Mol Med, Edinburgh EH4 2XU, Midlothian, Scotland

Al-Aama, Jumana Y.
论文数: 0 引用数: 0
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机构:
King Abdulaziz Univ, Dept Genet Med, Fac Med, Jeddah 21413, Saudi Arabia
King Abdulaziz Univ, Princess Al Jawhara Ctr Excellence Res Hereditary, Jeddah 21413, Saudi Arabia Western Gen Hosp, MRC, HGU, Inst Genet & Mol Med, Edinburgh EH4 2XU, Midlothian, Scotland

Bober, Michael
论文数: 0 引用数: 0
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机构:
Alfred I DuPont Hosp Children, Div Genet, Dept Pediat, Wilmington, DE USA Western Gen Hosp, MRC, HGU, Inst Genet & Mol Med, Edinburgh EH4 2XU, Midlothian, Scotland

Brown, Paul A. J.
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机构:
Aberdeen Royal Infirm, Dept Pathol, Aberdeen, Scotland Western Gen Hosp, MRC, HGU, Inst Genet & Mol Med, Edinburgh EH4 2XU, Midlothian, Scotland

van Bokhoven, Hans
论文数: 0 引用数: 0
h-index: 0
机构:
Radboud Univ Nijmegen, Dept Human Genet, Med Ctr, Nijmegen Ctr Mol Life Sci, NL-6525 ED Nijmegen, Netherlands
Radboud Univ Nijmegen, Inst Genet & Metab Dis, Med Ctr, NL-6525 ED Nijmegen, Netherlands Western Gen Hosp, MRC, HGU, Inst Genet & Mol Med, Edinburgh EH4 2XU, Midlothian, Scotland

Dean, John
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机构:
Dept Clin Genet, Aberdeen, Scotland Western Gen Hosp, MRC, HGU, Inst Genet & Mol Med, Edinburgh EH4 2XU, Midlothian, Scotland

Edrees, Alaa Y.
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机构:
King Abdulaziz Univ, Princess Al Jawhara Ctr Excellence Res Hereditary, Jeddah 21413, Saudi Arabia Western Gen Hosp, MRC, HGU, Inst Genet & Mol Med, Edinburgh EH4 2XU, Midlothian, Scotland

Feingold, Murray
论文数: 0 引用数: 0
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Natl Birth Defects Ctr, Waltham, MA USA Western Gen Hosp, MRC, HGU, Inst Genet & Mol Med, Edinburgh EH4 2XU, Midlothian, Scotland

Fryer, Alan
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Royal Liverpool Childrens Hosp, Dept Clin Genet, Liverpool L7 7DG, Merseyside, England Western Gen Hosp, MRC, HGU, Inst Genet & Mol Med, Edinburgh EH4 2XU, Midlothian, Scotland

Hoefsloot, Lies H.
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Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Inst Genet & Metab Dis, NL-6525 ED Nijmegen, Netherlands Western Gen Hosp, MRC, HGU, Inst Genet & Mol Med, Edinburgh EH4 2XU, Midlothian, Scotland

Kau, Nikolaus
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机构:
Aberdeen Matern Hosp, Aberdeen, Scotland Western Gen Hosp, MRC, HGU, Inst Genet & Mol Med, Edinburgh EH4 2XU, Midlothian, Scotland

Knoers, Nine V. A. M.
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机构:
Univ Med Ctr Utrecht, Dept Med Genet, Utrecht, Netherlands Western Gen Hosp, MRC, HGU, Inst Genet & Mol Med, Edinburgh EH4 2XU, Midlothian, Scotland

MacKenzie, James
论文数: 0 引用数: 0
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机构:
Aberdeen Royal Infirm, Dept Pathol, Aberdeen, Scotland Western Gen Hosp, MRC, HGU, Inst Genet & Mol Med, Edinburgh EH4 2XU, Midlothian, Scotland

Opitz, John M.
论文数: 0 引用数: 0
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机构:
Univ Utah, Salt Lake City, UT USA Western Gen Hosp, MRC, HGU, Inst Genet & Mol Med, Edinburgh EH4 2XU, Midlothian, Scotland

Sarda, Pierre
论文数: 0 引用数: 0
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机构:
Ctr Hosp Reg Univ Montpellier, Hop Arnaud Villeneuve, Serv Genet Med, Ctr Reference Anomalies Dev, F-34059 Montpellier, France Western Gen Hosp, MRC, HGU, Inst Genet & Mol Med, Edinburgh EH4 2XU, Midlothian, Scotland

Ross, Alison
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机构:
Dept Clin Genet, Aberdeen, Scotland Western Gen Hosp, MRC, HGU, Inst Genet & Mol Med, Edinburgh EH4 2XU, Midlothian, Scotland

Temple, I. Karen
论文数: 0 引用数: 0
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机构:
Univ Southampton, Southampton Gen Hosp, Div Human Genet, Fac Med, Southampton, Hants, England Western Gen Hosp, MRC, HGU, Inst Genet & Mol Med, Edinburgh EH4 2XU, Midlothian, Scotland

Toutain, Annick
论文数: 0 引用数: 0
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机构:
Hop Bretonneau, Serv Genet, Tours, France Western Gen Hosp, MRC, HGU, Inst Genet & Mol Med, Edinburgh EH4 2XU, Midlothian, Scotland

Wise, Carol A.
论文数: 0 引用数: 0
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机构:
Texas Scottish Rite Hosp Children, Sarah M & Charles E Seay Ctr Musculoskeletal Res, Dallas, TX 75219 USA Western Gen Hosp, MRC, HGU, Inst Genet & Mol Med, Edinburgh EH4 2XU, Midlothian, Scotland

Wright, Michael
论文数: 0 引用数: 0
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机构:
Newcastle Upon Tyne Hosp Natl Hlth Serv Trust, No Genet Serv, Newcastle Upon Tyne, Tyne & Wear, England Western Gen Hosp, MRC, HGU, Inst Genet & Mol Med, Edinburgh EH4 2XU, Midlothian, Scotland

Jackson, Andrew P.
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Western Gen Hosp, MRC, HGU, Inst Genet & Mol Med, Edinburgh EH4 2XU, Midlothian, Scotland Western Gen Hosp, MRC, HGU, Inst Genet & Mol Med, Edinburgh EH4 2XU, Midlothian, Scotland
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ATM, ATR, and DNA-PK: The Trinity at the Heart of the DNA Damage Response
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Blackford, Andrew N.
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机构:
Univ Oxford, John Radcliffe Hosp, Weatherall Inst Mol Med, Oxford OX3 9DS, England
Univ Oxford, Canc Res UK, Oxford OX3 7DQ, England
Univ Oxford, Med Res Council Oxford Inst Radiat Oncol, Dept Oncol, Oxford OX3 7DQ, England
Univ Cambridge, Wellcome Trust, Tennis Court Rd, Cambridge CB2 1QN, England
Univ Cambridge, Canc Res UK Gurdon Inst, Tennis Court Rd, Cambridge CB2 1QN, England Univ Oxford, John Radcliffe Hosp, Weatherall Inst Mol Med, Oxford OX3 9DS, England

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New MCM8 mutation associated with premature ovarian insufficiency and chromosomal instability in a highly consanguineous Tunisian family
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Bouali, Nouha
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h-index: 0
机构:
Farhat Hached Univ Hosp, Lab Human Cytogenet Mol Genet & Reprod Biol, St Ibn ELJAZZAR, Sousse 4000, Tunisia Farhat Hached Univ Hosp, Lab Human Cytogenet Mol Genet & Reprod Biol, St Ibn ELJAZZAR, Sousse 4000, Tunisia

Francou, Bruno
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Paris Saclay, Univ Paris Sud, Fac Med Paris Sud, Inserm UMRS 1185, Le Kremlin Bicetre, France
Hop Bicetre, Assistance Publ Hop Paris, Serv Genet Mol Pharmacogenet & Hormonol, Le Kremlin Bicetre, France Farhat Hached Univ Hosp, Lab Human Cytogenet Mol Genet & Reprod Biol, St Ibn ELJAZZAR, Sousse 4000, Tunisia

Bouligand, Jerome
论文数: 0 引用数: 0
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机构:
Univ Paris Saclay, Univ Paris Sud, Fac Med Paris Sud, Inserm UMRS 1185, Le Kremlin Bicetre, France
Hop Bicetre, Assistance Publ Hop Paris, Serv Genet Mol Pharmacogenet & Hormonol, Le Kremlin Bicetre, France Farhat Hached Univ Hosp, Lab Human Cytogenet Mol Genet & Reprod Biol, St Ibn ELJAZZAR, Sousse 4000, Tunisia

Imanci, Dilek
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机构:
Hop Bicetre, Assistance Publ Hop Paris, Serv Genet Mol Pharmacogenet & Hormonol, Le Kremlin Bicetre, France Farhat Hached Univ Hosp, Lab Human Cytogenet Mol Genet & Reprod Biol, St Ibn ELJAZZAR, Sousse 4000, Tunisia

Dirnassi, Sarra
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机构:
Farhat Hached Univ Hosp, Lab Human Cytogenet Mol Genet & Reprod Biol, St Ibn ELJAZZAR, Sousse 4000, Tunisia Farhat Hached Univ Hosp, Lab Human Cytogenet Mol Genet & Reprod Biol, St Ibn ELJAZZAR, Sousse 4000, Tunisia

Tosca, Lucie
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机构:
Hop Antoine Beclere, Serv Histol Embryol & Cytogenet, Clamart, France Farhat Hached Univ Hosp, Lab Human Cytogenet Mol Genet & Reprod Biol, St Ibn ELJAZZAR, Sousse 4000, Tunisia

Zaouali, Mania
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h-index: 0
机构:
Farhat Hached Univ Hosp, Dept Physiol & Funct Explorat, Sousse, Tunisia Farhat Hached Univ Hosp, Lab Human Cytogenet Mol Genet & Reprod Biol, St Ibn ELJAZZAR, Sousse 4000, Tunisia

Mougou, Soumaya
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h-index: 0
机构:
Farhat Hached Univ Hosp, Lab Human Cytogenet Mol Genet & Reprod Biol, St Ibn ELJAZZAR, Sousse 4000, Tunisia Farhat Hached Univ Hosp, Lab Human Cytogenet Mol Genet & Reprod Biol, St Ibn ELJAZZAR, Sousse 4000, Tunisia

Young, Jacques
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Paris Saclay, Univ Paris Sud, Fac Med Paris Sud, Inserm UMRS 1185, Le Kremlin Bicetre, France
Hop Bicetre, Assistance Publ Hop Paris, Serv Endocrinol & Malad Reprod, Le Kremlin Bicetre, France Farhat Hached Univ Hosp, Lab Human Cytogenet Mol Genet & Reprod Biol, St Ibn ELJAZZAR, Sousse 4000, Tunisia

Saad, Ali
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机构:
Farhat Hached Univ Hosp, Lab Human Cytogenet Mol Genet & Reprod Biol, St Ibn ELJAZZAR, Sousse 4000, Tunisia Farhat Hached Univ Hosp, Lab Human Cytogenet Mol Genet & Reprod Biol, St Ibn ELJAZZAR, Sousse 4000, Tunisia

Mantel, Anne Guiochon
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Paris Saclay, Univ Paris Sud, Fac Med Paris Sud, Inserm UMRS 1185, Le Kremlin Bicetre, France
Hop Bicetre, Assistance Publ Hop Paris, Serv Genet Mol Pharmacogenet & Hormonol, Le Kremlin Bicetre, France Farhat Hached Univ Hosp, Lab Human Cytogenet Mol Genet & Reprod Biol, St Ibn ELJAZZAR, Sousse 4000, Tunisia
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