共 11 条
[1]
A DISTINCT OSTEOCHONDRODYSPLASIA WITH HYPER-TRICHOSIS - INDIVIDUALIZATION OF A PROBABLE AUTOSOMAL RECESSIVE ENTITY
[J].
CANTU, JM
;
GARCIACRUZ, D
;
SANCHEZCORONA, J
;
HERNANDEZ, A
;
NAZARA, Z
.
HUMAN GENETICS,
1982, 60 (01)
:36-41

CANTU, JM
论文数: 0 引用数: 0
h-index: 0
机构:
HOSP ESPECIALIDADES,INST MEXICANO SEGURO SOCIAL,CTR MED OCCIDENTE,GUADALAJARA,MEXICO HOSP ESPECIALIDADES,INST MEXICANO SEGURO SOCIAL,CTR MED OCCIDENTE,GUADALAJARA,MEXICO

GARCIACRUZ, D
论文数: 0 引用数: 0
h-index: 0
机构:
HOSP ESPECIALIDADES,INST MEXICANO SEGURO SOCIAL,CTR MED OCCIDENTE,GUADALAJARA,MEXICO HOSP ESPECIALIDADES,INST MEXICANO SEGURO SOCIAL,CTR MED OCCIDENTE,GUADALAJARA,MEXICO

SANCHEZCORONA, J
论文数: 0 引用数: 0
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机构:
HOSP ESPECIALIDADES,INST MEXICANO SEGURO SOCIAL,CTR MED OCCIDENTE,GUADALAJARA,MEXICO HOSP ESPECIALIDADES,INST MEXICANO SEGURO SOCIAL,CTR MED OCCIDENTE,GUADALAJARA,MEXICO

HERNANDEZ, A
论文数: 0 引用数: 0
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机构:
HOSP ESPECIALIDADES,INST MEXICANO SEGURO SOCIAL,CTR MED OCCIDENTE,GUADALAJARA,MEXICO HOSP ESPECIALIDADES,INST MEXICANO SEGURO SOCIAL,CTR MED OCCIDENTE,GUADALAJARA,MEXICO

NAZARA, Z
论文数: 0 引用数: 0
h-index: 0
机构:
HOSP ESPECIALIDADES,INST MEXICANO SEGURO SOCIAL,CTR MED OCCIDENTE,GUADALAJARA,MEXICO HOSP ESPECIALIDADES,INST MEXICANO SEGURO SOCIAL,CTR MED OCCIDENTE,GUADALAJARA,MEXICO
[2]
Cantu Syndrome Resulting from Activating Mutation in the KCNJ8 Gene
[J].
Cooper, Paige E.
;
Reutter, Heiko
;
Woelfle, Joachim
;
Engels, Hartmut
;
Grange, Dorothy K.
;
van Haaften, Gijs
;
van Bon, Bregje W.
;
Hoischen, Alexander
;
Nichols, Colin G.
.
HUMAN MUTATION,
2014, 35 (07)
:809-813

Cooper, Paige E.
论文数: 0 引用数: 0
h-index: 0
机构:
Washington Univ, Dept Cell Biol & Physiol, Sch Med, St Louis, MO 63110 USA
Washington Univ, Ctr Invest Membrane Excitabil Dis, Sch Med, St Louis, MO 63110 USA Washington Univ, Dept Cell Biol & Physiol, Sch Med, St Louis, MO 63110 USA

Reutter, Heiko
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Bonn, Childrens Hosp, Dept Neonatol, Bonn, Germany
Univ Bonn, Inst Human Genet, Bonn, Germany Washington Univ, Dept Cell Biol & Physiol, Sch Med, St Louis, MO 63110 USA

Woelfle, Joachim
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Bonn, Childrens Hosp, Pediat Endocrinol Div, Bonn, Germany Washington Univ, Dept Cell Biol & Physiol, Sch Med, St Louis, MO 63110 USA

Engels, Hartmut
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Bonn, Childrens Hosp, Dept Neonatol, Bonn, Germany
Univ Bonn, Inst Human Genet, Bonn, Germany Washington Univ, Dept Cell Biol & Physiol, Sch Med, St Louis, MO 63110 USA

Grange, Dorothy K.
论文数: 0 引用数: 0
h-index: 0
机构:
Washington Univ, Dept Pediat, Sch Med, St Louis, MO 63110 USA Washington Univ, Dept Cell Biol & Physiol, Sch Med, St Louis, MO 63110 USA

van Haaften, Gijs
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Med Ctr Utrecht, Dept Med Genet, Utrecht, Netherlands Washington Univ, Dept Cell Biol & Physiol, Sch Med, St Louis, MO 63110 USA

van Bon, Bregje W.
论文数: 0 引用数: 0
h-index: 0
机构:
Radboud Univ Nijmegen, Med Ctr, Inst Genet & Metab Dis, Dept Human Genet,Nijmegen Ctr Mol Life Sci, NL-6525 ED Nijmegen, Netherlands Washington Univ, Dept Cell Biol & Physiol, Sch Med, St Louis, MO 63110 USA

Hoischen, Alexander
论文数: 0 引用数: 0
h-index: 0
机构:
Radboud Univ Nijmegen, Med Ctr, Inst Genet & Metab Dis, Dept Human Genet,Nijmegen Ctr Mol Life Sci, NL-6525 ED Nijmegen, Netherlands Washington Univ, Dept Cell Biol & Physiol, Sch Med, St Louis, MO 63110 USA

Nichols, Colin G.
论文数: 0 引用数: 0
h-index: 0
机构:
Washington Univ, Dept Cell Biol & Physiol, Sch Med, St Louis, MO 63110 USA
Washington Univ, Ctr Invest Membrane Excitabil Dis, Sch Med, St Louis, MO 63110 USA Washington Univ, Dept Cell Biol & Physiol, Sch Med, St Louis, MO 63110 USA
[3]
Essential role of G protein-gated inwardly rectifying potassium channels in gonadotropin-induced regulation of GnRH neuronal firing and pulsatile neurosecretion
[J].
Hu, Lian
;
Wada, Keiko
;
Mores, Nadia
;
Krsmanovic, Lazar Z.
;
Catt, Kevin J.
.
JOURNAL OF BIOLOGICAL CHEMISTRY,
2006, 281 (35)
:25231-25240

Hu, Lian
论文数: 0 引用数: 0
h-index: 0
机构:
NICHD, Endocrinol & Reprod Res Branch, NIH, Bethesda, MD 20892 USA NICHD, Endocrinol & Reprod Res Branch, NIH, Bethesda, MD 20892 USA

Wada, Keiko
论文数: 0 引用数: 0
h-index: 0
机构:
NICHD, Endocrinol & Reprod Res Branch, NIH, Bethesda, MD 20892 USA NICHD, Endocrinol & Reprod Res Branch, NIH, Bethesda, MD 20892 USA

Mores, Nadia
论文数: 0 引用数: 0
h-index: 0
机构:
NICHD, Endocrinol & Reprod Res Branch, NIH, Bethesda, MD 20892 USA NICHD, Endocrinol & Reprod Res Branch, NIH, Bethesda, MD 20892 USA

Krsmanovic, Lazar Z.
论文数: 0 引用数: 0
h-index: 0
机构:
NICHD, Endocrinol & Reprod Res Branch, NIH, Bethesda, MD 20892 USA NICHD, Endocrinol & Reprod Res Branch, NIH, Bethesda, MD 20892 USA

Catt, Kevin J.
论文数: 0 引用数: 0
h-index: 0
机构:
NICHD, Endocrinol & Reprod Res Branch, NIH, Bethesda, MD 20892 USA NICHD, Endocrinol & Reprod Res Branch, NIH, Bethesda, MD 20892 USA
[4]
Glibenclamide treatment in a Cantu syndrome patient with a pathogenic ABCC9 gain-of-function variant: Initial experience
[J].
Ma, Alan
;
Gurnasinghani, Sunita
;
Kirk, Edwin P.
;
McClenaghan, Conor
;
Singh, Gautam K.
;
Grange, Dorothy K.
;
Pandit, Chetan
;
Zhu, Yung
;
Roscioli, Tony
;
Elakis, George
;
Buckley, Michael
;
Mehta, Bhavesh
;
Roberts, Philip
;
Mervis, Jonathan
;
Biggin, Andrew
;
Nichols, Colin G.
.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A,
2019, 179 (08)
:1585-1590

Ma, Alan
论文数: 0 引用数: 0
h-index: 0
机构:
Sydney Childrens Hosp Network, Childrens Hosp Westmead, Dept Clin Genet, Sydney, NSW, Australia
Univ Sydney, Sydney Med Sch, Discipline Genom Med, Sydney, NSW, Australia Sydney Childrens Hosp Network, Childrens Hosp Westmead, Dept Clin Genet, Sydney, NSW, Australia

Gurnasinghani, Sunita
论文数: 0 引用数: 0
h-index: 0
机构:
Sydney Childrens Hosp Network, Childrens Hosp Westmead, Dept Clin Genet, Sydney, NSW, Australia Sydney Childrens Hosp Network, Childrens Hosp Westmead, Dept Clin Genet, Sydney, NSW, Australia

Kirk, Edwin P.
论文数: 0 引用数: 0
h-index: 0
机构:
Sydney Childrens Hosp Network, Sydney Childrens Hosp, Ctr Clin Genet, Sydney, NSW, Australia
NSW Hlth Pathol, East Genom Lab, Sydney, NSW, Australia
Univ NSW, Sch Womens & Childrens Hlth, Sydney, NSW, Australia Sydney Childrens Hosp Network, Childrens Hosp Westmead, Dept Clin Genet, Sydney, NSW, Australia

McClenaghan, Conor
论文数: 0 引用数: 0
h-index: 0
机构:
Washington Univ, Sch Med, Ctr Invest Membrane Excitabil Dis, 660 South Euclid Ave, St Louis, MO 63110 USA
Washington Univ, Sch Med, Dept Cell Biol & Physiol, St Louis, MO 63110 USA Sydney Childrens Hosp Network, Childrens Hosp Westmead, Dept Clin Genet, Sydney, NSW, Australia

Singh, Gautam K.
论文数: 0 引用数: 0
h-index: 0
机构:
Washington Univ, Sch Med, Dept Pediat, St Louis, MO 63110 USA Sydney Childrens Hosp Network, Childrens Hosp Westmead, Dept Clin Genet, Sydney, NSW, Australia

Grange, Dorothy K.
论文数: 0 引用数: 0
h-index: 0
机构:
Washington Univ, Sch Med, Dept Pediat, St Louis, MO 63110 USA Sydney Childrens Hosp Network, Childrens Hosp Westmead, Dept Clin Genet, Sydney, NSW, Australia

Pandit, Chetan
论文数: 0 引用数: 0
h-index: 0
机构:
Childrens Hosp Westmead, Dept Resp & Sleep Med, Sydney, NSW, Australia Sydney Childrens Hosp Network, Childrens Hosp Westmead, Dept Clin Genet, Sydney, NSW, Australia

Zhu, Yung
论文数: 0 引用数: 0
h-index: 0
机构:
NSW Hlth Pathol, East Genom Lab, Sydney, NSW, Australia Sydney Childrens Hosp Network, Childrens Hosp Westmead, Dept Clin Genet, Sydney, NSW, Australia

Roscioli, Tony
论文数: 0 引用数: 0
h-index: 0
机构:
Sydney Childrens Hosp Network, Sydney Childrens Hosp, Ctr Clin Genet, Sydney, NSW, Australia
NSW Hlth Pathol, East Genom Lab, Sydney, NSW, Australia Sydney Childrens Hosp Network, Childrens Hosp Westmead, Dept Clin Genet, Sydney, NSW, Australia

Elakis, George
论文数: 0 引用数: 0
h-index: 0
机构:
NSW Hlth Pathol, East Genom Lab, Sydney, NSW, Australia Sydney Childrens Hosp Network, Childrens Hosp Westmead, Dept Clin Genet, Sydney, NSW, Australia

Buckley, Michael
论文数: 0 引用数: 0
h-index: 0
机构:
NSW Hlth Pathol, East Genom Lab, Sydney, NSW, Australia Sydney Childrens Hosp Network, Childrens Hosp Westmead, Dept Clin Genet, Sydney, NSW, Australia

Mehta, Bhavesh
论文数: 0 引用数: 0
h-index: 0
机构:
Childrens Hosp Westmead, Grace Ctr Newborn Intens Care, Sydney, NSW, Australia Sydney Childrens Hosp Network, Childrens Hosp Westmead, Dept Clin Genet, Sydney, NSW, Australia

Roberts, Philip
论文数: 0 引用数: 0
h-index: 0
机构:
Childrens Hosp Westmead, Dept Cardiol, Sydney, NSW, Australia Sydney Childrens Hosp Network, Childrens Hosp Westmead, Dept Clin Genet, Sydney, NSW, Australia

Mervis, Jonathan
论文数: 0 引用数: 0
h-index: 0
机构:
Childrens Hosp Westmead, Dept Cardiol, Sydney, NSW, Australia Sydney Childrens Hosp Network, Childrens Hosp Westmead, Dept Clin Genet, Sydney, NSW, Australia

Biggin, Andrew
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Sydney, Childrens Hosp Westmead, Sch Clin, Sydney, NSW, Australia
Childrens Hosp Westmead, Inst Endocrinol & Diabet, Sydney, NSW, Australia Sydney Childrens Hosp Network, Childrens Hosp Westmead, Dept Clin Genet, Sydney, NSW, Australia

Nichols, Colin G.
论文数: 0 引用数: 0
h-index: 0
机构:
Washington Univ, Sch Med, Ctr Invest Membrane Excitabil Dis, 660 South Euclid Ave, St Louis, MO 63110 USA
Washington Univ, Sch Med, Dept Cell Biol & Physiol, St Louis, MO 63110 USA Sydney Childrens Hosp Network, Childrens Hosp Westmead, Dept Clin Genet, Sydney, NSW, Australia
[5]
CantA syndrome with coexisting familial pituitary adenoma
[J].
Marques, Pedro
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Spencer, Rupert
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Morrison, Patrick J.
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Carr, Ian M.
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Dang, Mary N.
;
Bonthron, David T.
;
Hunter, Steven
;
Korbonits, Marta
.
ENDOCRINE,
2018, 59 (03)
:677-684

论文数: 引用数:
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Spencer, Rupert
论文数: 0 引用数: 0
h-index: 0
机构:
Queen Mary Univ London, William Harvey Res Inst, Barts & London Sch Med & Dent, Ctr Endocrinol, London, England Queen Mary Univ London, William Harvey Res Inst, Barts & London Sch Med & Dent, Ctr Endocrinol, London, England

Morrison, Patrick J.
论文数: 0 引用数: 0
h-index: 0
机构:
Belfast HSC Trust, Dept Med Genet, Belfast, Antrim, North Ireland Queen Mary Univ London, William Harvey Res Inst, Barts & London Sch Med & Dent, Ctr Endocrinol, London, England

Carr, Ian M.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Leeds, St Jamess Univ Hosp, Sch Med, Leeds, W Yorkshire, England Queen Mary Univ London, William Harvey Res Inst, Barts & London Sch Med & Dent, Ctr Endocrinol, London, England

Dang, Mary N.
论文数: 0 引用数: 0
h-index: 0
机构:
Queen Mary Univ London, William Harvey Res Inst, Barts & London Sch Med & Dent, Ctr Endocrinol, London, England Queen Mary Univ London, William Harvey Res Inst, Barts & London Sch Med & Dent, Ctr Endocrinol, London, England

Bonthron, David T.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Leeds, St Jamess Univ Hosp, Sch Med, Leeds, W Yorkshire, England Queen Mary Univ London, William Harvey Res Inst, Barts & London Sch Med & Dent, Ctr Endocrinol, London, England

Hunter, Steven
论文数: 0 引用数: 0
h-index: 0
机构:
Royal Victoria Hosp, Reg Ctr Endocrinol & Diabet, Belfast, Antrim, North Ireland Queen Mary Univ London, William Harvey Res Inst, Barts & London Sch Med & Dent, Ctr Endocrinol, London, England

Korbonits, Marta
论文数: 0 引用数: 0
h-index: 0
机构:
Queen Mary Univ London, William Harvey Res Inst, Barts & London Sch Med & Dent, Ctr Endocrinol, London, England Queen Mary Univ London, William Harvey Res Inst, Barts & London Sch Med & Dent, Ctr Endocrinol, London, England
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2001, 4 (05)
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Miki, T
论文数: 0 引用数: 0
h-index: 0
机构: Chiba Univ, Grad Sch Med, Dept Cellular & Mol Med, Chiba 2608670, Japan

Liss, B
论文数: 0 引用数: 0
h-index: 0
机构: Chiba Univ, Grad Sch Med, Dept Cellular & Mol Med, Chiba 2608670, Japan

Minami, K
论文数: 0 引用数: 0
h-index: 0
机构: Chiba Univ, Grad Sch Med, Dept Cellular & Mol Med, Chiba 2608670, Japan

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机构: Chiba Univ, Grad Sch Med, Dept Cellular & Mol Med, Chiba 2608670, Japan

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Kashima, Y
论文数: 0 引用数: 0
h-index: 0
机构: Chiba Univ, Grad Sch Med, Dept Cellular & Mol Med, Chiba 2608670, Japan

Horiuchi, M
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h-index: 0
机构: Chiba Univ, Grad Sch Med, Dept Cellular & Mol Med, Chiba 2608670, Japan

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Minokoshi, Y
论文数: 0 引用数: 0
h-index: 0
机构: Chiba Univ, Grad Sch Med, Dept Cellular & Mol Med, Chiba 2608670, Japan

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Seino, S
论文数: 0 引用数: 0
h-index: 0
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Chiba Univ, Grad Sch Med, Dept Cellular & Mol Med, Chiba 2608670, Japan Chiba Univ, Grad Sch Med, Dept Cellular & Mol Med, Chiba 2608670, Japan
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Scurr, Ingrid
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Wilson, Louise
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Lees, Melissa
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Robertson, Stephen
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Kirk, Edwin
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Turner, Anne
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Morton, John
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Kidd, Alexa
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Shashi, Vandana
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Stanley, Christy
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Berry, Margaret
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Irvine, Alan D.
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Goudie, David
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Brewer, Carole
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AMERICAN JOURNAL OF MEDICAL GENETICS PART A,
2011, 155A (03)
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Scurr, Ingrid
论文数: 0 引用数: 0
h-index: 0
机构:
St Michaels Hosp, Dept Clin Genet, Bristol BS2 8EG, Avon, England St Michaels Hosp, Dept Clin Genet, Bristol BS2 8EG, Avon, England

Wilson, Louise
论文数: 0 引用数: 0
h-index: 0
机构:
Great Ormond St Hosp Sick Children, London, England St Michaels Hosp, Dept Clin Genet, Bristol BS2 8EG, Avon, England

Lees, Melissa
论文数: 0 引用数: 0
h-index: 0
机构:
Great Ormond St Hosp Sick Children, London, England St Michaels Hosp, Dept Clin Genet, Bristol BS2 8EG, Avon, England

Robertson, Stephen
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Otago, Sch Med, Dept Paediat, Dunedin, New Zealand St Michaels Hosp, Dept Clin Genet, Bristol BS2 8EG, Avon, England

Kirk, Edwin
论文数: 0 引用数: 0
h-index: 0
机构:
Sydney Childrens Hosp, Dept Med Genet, Sydney, NSW, Australia St Michaels Hosp, Dept Clin Genet, Bristol BS2 8EG, Avon, England

Turner, Anne
论文数: 0 引用数: 0
h-index: 0
机构:
Sydney Childrens Hosp, Dept Med Genet, Sydney, NSW, Australia St Michaels Hosp, Dept Clin Genet, Bristol BS2 8EG, Avon, England

Morton, John
论文数: 0 引用数: 0
h-index: 0
机构:
Sydney Childrens Hosp, Dept Resp Med, Sydney, NSW, Australia St Michaels Hosp, Dept Clin Genet, Bristol BS2 8EG, Avon, England

Kidd, Alexa
论文数: 0 引用数: 0
h-index: 0
机构:
Canterbury Hlth Labs, Christchurch, New Zealand St Michaels Hosp, Dept Clin Genet, Bristol BS2 8EG, Avon, England

Shashi, Vandana
论文数: 0 引用数: 0
h-index: 0
机构:
Duke Univ, Med Ctr, Durham, NC USA St Michaels Hosp, Dept Clin Genet, Bristol BS2 8EG, Avon, England

Stanley, Christy
论文数: 0 引用数: 0
h-index: 0
机构:
Wake Forest Univ Hlth Sci, Winston Salem, NC USA St Michaels Hosp, Dept Clin Genet, Bristol BS2 8EG, Avon, England

Berry, Margaret
论文数: 0 引用数: 0
h-index: 0
机构:
Wake Forest Univ Hlth Sci, Winston Salem, NC USA St Michaels Hosp, Dept Clin Genet, Bristol BS2 8EG, Avon, England

Irvine, Alan D.
论文数: 0 引用数: 0
h-index: 0
机构:
Depatment Paediat Dermatol Our Ladys Childrens Ho, Dublin, Ireland St Michaels Hosp, Dept Clin Genet, Bristol BS2 8EG, Avon, England

Goudie, David
论文数: 0 引用数: 0
h-index: 0
机构:
Ninewells Hosp, Dept Med Genet, Dundee DD1 9SY, Scotland St Michaels Hosp, Dept Clin Genet, Bristol BS2 8EG, Avon, England

Turner, Claire
论文数: 0 引用数: 0
h-index: 0
机构:
Royal Devon & Exeter Hosp, Dept Clin Genet, Exeter EX2 5DW, Devon, England St Michaels Hosp, Dept Clin Genet, Bristol BS2 8EG, Avon, England

Brewer, Carole
论文数: 0 引用数: 0
h-index: 0
机构:
Royal Devon & Exeter Hosp, Dept Clin Genet, Exeter EX2 5DW, Devon, England St Michaels Hosp, Dept Clin Genet, Bristol BS2 8EG, Avon, England

Smithson, Sarah
论文数: 0 引用数: 0
h-index: 0
机构:
St Michaels Hosp, Dept Clin Genet, Bristol BS2 8EG, Avon, England St Michaels Hosp, Dept Clin Genet, Bristol BS2 8EG, Avon, England
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