共 26 条
[1]
A report of three families with FBN1-related acromelic dysplasias and review of literature for genotype-phenotype correlation in geleophysic dysplasia
[J].
Cheng, S. W.
;
Luk, Ho-Ming
;
Chu, YoYo W. Y.
;
Tung, Yuet-Ling
;
Kwan, Elanie Yin-Wah
;
Lo, Ivan Fai-Man
;
Chung, Brian Hon-Yin
.
EUROPEAN JOURNAL OF MEDICAL GENETICS,
2018, 61 (04)
:219-224

Cheng, S. W.
论文数: 0 引用数: 0
h-index: 0
机构:
Dept Hlth, Clin Genet Serv, Hong Kong, Hong Kong, Peoples R China Dept Hlth, Clin Genet Serv, Hong Kong, Hong Kong, Peoples R China

Luk, Ho-Ming
论文数: 0 引用数: 0
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机构:
Dept Hlth, Clin Genet Serv, Hong Kong, Hong Kong, Peoples R China Dept Hlth, Clin Genet Serv, Hong Kong, Hong Kong, Peoples R China

Chu, YoYo W. Y.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Hong Kong, Dept Paediat & Adolescent Med, Hong Kong, Hong Kong, Peoples R China Dept Hlth, Clin Genet Serv, Hong Kong, Hong Kong, Peoples R China

Tung, Yuet-Ling
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Hong Kong, Dept Paediat & Adolescent Med, Hong Kong, Hong Kong, Peoples R China Dept Hlth, Clin Genet Serv, Hong Kong, Hong Kong, Peoples R China

Kwan, Elanie Yin-Wah
论文数: 0 引用数: 0
h-index: 0
机构:
Pamela Youde Nethersole Eastern Hosp, Dept Paediat & Adolescent Med, Hong Kong, Hong Kong, Peoples R China Dept Hlth, Clin Genet Serv, Hong Kong, Hong Kong, Peoples R China

Lo, Ivan Fai-Man
论文数: 0 引用数: 0
h-index: 0
机构:
Dept Hlth, Clin Genet Serv, Hong Kong, Hong Kong, Peoples R China Dept Hlth, Clin Genet Serv, Hong Kong, Hong Kong, Peoples R China

Chung, Brian Hon-Yin
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Hong Kong, Dept Paediat & Adolescent Med, Hong Kong, Hong Kong, Peoples R China Dept Hlth, Clin Genet Serv, Hong Kong, Hong Kong, Peoples R China
[2]
Two Patients with Severe Short Stature due to a FBN1 Mutation (p.Ala1728Val) with a Mild Form of Acromicric Dysplasia
[J].
de Bruin, Christiaan
;
Finlayson, Courtney
;
Funari, Mariana F. A.
;
Vasques, Gabriela A.
;
Freire, Bruna Lucheze
;
Lerario, Antonio M.
;
Andrew, Melissa
;
Hwa, Vivian
;
Dauber, Andrew
;
Jorge, Alexander A. L.
.
HORMONE RESEARCH IN PAEDIATRICS,
2016, 86 (05)
:342-348

de Bruin, Christiaan
论文数: 0 引用数: 0
h-index: 0
机构:
Cincinnati Childrens Hosp Med Ctr, Cincinnati Ctr Growth Disorders, Div Endocrinol, Cincinnati, OH 45229 USA Cincinnati Childrens Hosp Med Ctr, Cincinnati Ctr Growth Disorders, Div Endocrinol, Cincinnati, OH 45229 USA

Finlayson, Courtney
论文数: 0 引用数: 0
h-index: 0
机构:
Ann & Robert H Lurie Childrens Hosp Chicago, Div Endocrinol, Chicago, IL 60611 USA Cincinnati Childrens Hosp Med Ctr, Cincinnati Ctr Growth Disorders, Div Endocrinol, Cincinnati, OH 45229 USA

Funari, Mariana F. A.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Sao Paulo, Fac Med, Hosp Clin, Unidad Endocrinol Desenvolvimento,Lab Hormonios &, Sao Paulo, Brazil Cincinnati Childrens Hosp Med Ctr, Cincinnati Ctr Growth Disorders, Div Endocrinol, Cincinnati, OH 45229 USA

Vasques, Gabriela A.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Sao Paulo, Fac Med, Hosp Clin, Unidad Endocrinol Genet LIM25, Sao Paulo, Brazil Cincinnati Childrens Hosp Med Ctr, Cincinnati Ctr Growth Disorders, Div Endocrinol, Cincinnati, OH 45229 USA

Freire, Bruna Lucheze
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Sao Paulo, Fac Med, Hosp Clin, Unidad Endocrinol Desenvolvimento,Lab Hormonios &, Sao Paulo, Brazil Cincinnati Childrens Hosp Med Ctr, Cincinnati Ctr Growth Disorders, Div Endocrinol, Cincinnati, OH 45229 USA

论文数: 引用数:
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Andrew, Melissa
论文数: 0 引用数: 0
h-index: 0
机构:
Cincinnati Childrens Hosp Med Ctr, Cincinnati Ctr Growth Disorders, Div Endocrinol, Cincinnati, OH 45229 USA Cincinnati Childrens Hosp Med Ctr, Cincinnati Ctr Growth Disorders, Div Endocrinol, Cincinnati, OH 45229 USA

Hwa, Vivian
论文数: 0 引用数: 0
h-index: 0
机构:
Cincinnati Childrens Hosp Med Ctr, Cincinnati Ctr Growth Disorders, Div Endocrinol, Cincinnati, OH 45229 USA Cincinnati Childrens Hosp Med Ctr, Cincinnati Ctr Growth Disorders, Div Endocrinol, Cincinnati, OH 45229 USA

Dauber, Andrew
论文数: 0 引用数: 0
h-index: 0
机构:
Cincinnati Childrens Hosp Med Ctr, Cincinnati Ctr Growth Disorders, Div Endocrinol, Cincinnati, OH 45229 USA Cincinnati Childrens Hosp Med Ctr, Cincinnati Ctr Growth Disorders, Div Endocrinol, Cincinnati, OH 45229 USA

Jorge, Alexander A. L.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Sao Paulo, Fac Med, Hosp Clin, Unidad Endocrinol Desenvolvimento,Lab Hormonios &, Sao Paulo, Brazil
Univ Sao Paulo, Fac Med, Hosp Clin, Unidad Endocrinol Genet LIM25, Sao Paulo, Brazil Cincinnati Childrens Hosp Med Ctr, Cincinnati Ctr Growth Disorders, Div Endocrinol, Cincinnati, OH 45229 USA
[3]
Acromicric dysplasia: long term outcome and evidence of autosomal dominant inheritance
[J].
Faivre, L
;
Le Merrer, M
;
Baumann, C
;
Polak, M
;
Chatelain, P
;
Sulmont, V
;
Cousin, J
;
Bost, M
;
Cordier, MP
;
Zackai, E
;
Russell, K
;
Finidori, G
;
Pouliquen, JC
;
Munnich, A
;
Maroteaux, P
;
Cormier-Daire, V
.
JOURNAL OF MEDICAL GENETICS,
2001, 38 (11)
:745-749

Faivre, L
论文数: 0 引用数: 0
h-index: 0
机构: Hop Necker Enfants Malad, Dept Genet, F-75015 Paris, France

Le Merrer, M
论文数: 0 引用数: 0
h-index: 0
机构: Hop Necker Enfants Malad, Dept Genet, F-75015 Paris, France

Baumann, C
论文数: 0 引用数: 0
h-index: 0
机构: Hop Necker Enfants Malad, Dept Genet, F-75015 Paris, France

Polak, M
论文数: 0 引用数: 0
h-index: 0
机构: Hop Necker Enfants Malad, Dept Genet, F-75015 Paris, France

Chatelain, P
论文数: 0 引用数: 0
h-index: 0
机构: Hop Necker Enfants Malad, Dept Genet, F-75015 Paris, France

Sulmont, V
论文数: 0 引用数: 0
h-index: 0
机构: Hop Necker Enfants Malad, Dept Genet, F-75015 Paris, France

Cousin, J
论文数: 0 引用数: 0
h-index: 0
机构: Hop Necker Enfants Malad, Dept Genet, F-75015 Paris, France

Bost, M
论文数: 0 引用数: 0
h-index: 0
机构: Hop Necker Enfants Malad, Dept Genet, F-75015 Paris, France

Cordier, MP
论文数: 0 引用数: 0
h-index: 0
机构: Hop Necker Enfants Malad, Dept Genet, F-75015 Paris, France

Zackai, E
论文数: 0 引用数: 0
h-index: 0
机构: Hop Necker Enfants Malad, Dept Genet, F-75015 Paris, France

Russell, K
论文数: 0 引用数: 0
h-index: 0
机构: Hop Necker Enfants Malad, Dept Genet, F-75015 Paris, France

Finidori, G
论文数: 0 引用数: 0
h-index: 0
机构: Hop Necker Enfants Malad, Dept Genet, F-75015 Paris, France

Pouliquen, JC
论文数: 0 引用数: 0
h-index: 0
机构: Hop Necker Enfants Malad, Dept Genet, F-75015 Paris, France

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

Maroteaux, P
论文数: 0 引用数: 0
h-index: 0
机构: Hop Necker Enfants Malad, Dept Genet, F-75015 Paris, France

Cormier-Daire, V
论文数: 0 引用数: 0
h-index: 0
机构: Hop Necker Enfants Malad, Dept Genet, F-75015 Paris, France
[4]
The Clinical Cases of Geleophysic Dysplasia: One Gene, Different Phenotypes
[J].
Globa, Evgenia
;
Zelinska, Nataliya
;
Dauber, Andrew
.
CASE REPORTS IN ENDOCRINOLOGY,
2018, 2018

Globa, Evgenia
论文数: 0 引用数: 0
h-index: 0
机构:
Ukrainian Res Ctr Endocrine Surg, Pediat Endocrinol Dept, Kiev, Ukraine Ukrainian Res Ctr Endocrine Surg, Pediat Endocrinol Dept, Kiev, Ukraine

Zelinska, Nataliya
论文数: 0 引用数: 0
h-index: 0
机构:
Ukrainian Res Ctr Endocrine Surg, Pediat Endocrinol Dept, Kiev, Ukraine Ukrainian Res Ctr Endocrine Surg, Pediat Endocrinol Dept, Kiev, Ukraine

Dauber, Andrew
论文数: 0 引用数: 0
h-index: 0
机构:
Cincinnati Childrens Hosp Med Ctr, Cincinnati Ctr Growth Disorders, Div Endocrinol, Cincinnati, OH 45229 USA Ukrainian Res Ctr Endocrine Surg, Pediat Endocrinol Dept, Kiev, Ukraine
[5]
Three cases of Japanese acromicric/geleophysic dysplasia with FBN1 mutations: a comparison of clinical and radiological features
[J].
Hasegawa, Kosei
;
Numakura, Chikahiko
;
Tanaka, Hiroyuki
;
Furujo, Mahoko
;
Kubo, Toshihide
;
Higuchi, Yousuke
;
Yamashita, Miho
;
Tsukahara, Hirokazu
.
JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM,
2017, 30 (01)
:117-121

Hasegawa, Kosei
论文数: 0 引用数: 0
h-index: 0
机构:
Okayama Univ Hosp, Dept Pediat, Kita Ku, 2-5-1 Shikata Cho, Okayama 7008558, Japan Okayama Univ Hosp, Dept Pediat, Kita Ku, 2-5-1 Shikata Cho, Okayama 7008558, Japan

Numakura, Chikahiko
论文数: 0 引用数: 0
h-index: 0
机构:
Yamagata Univ, Fac Med, Dept Pediat, Yamagata, Japan Okayama Univ Hosp, Dept Pediat, Kita Ku, 2-5-1 Shikata Cho, Okayama 7008558, Japan

Tanaka, Hiroyuki
论文数: 0 引用数: 0
h-index: 0
机构:
Okayama Saiseikai Gen Hosp, Dept Pediat, Okayama, Japan Okayama Univ Hosp, Dept Pediat, Kita Ku, 2-5-1 Shikata Cho, Okayama 7008558, Japan

Furujo, Mahoko
论文数: 0 引用数: 0
h-index: 0
机构:
Okayama Med Ctr, Dept Pediat, Okayama, Japan Okayama Univ Hosp, Dept Pediat, Kita Ku, 2-5-1 Shikata Cho, Okayama 7008558, Japan

Kubo, Toshihide
论文数: 0 引用数: 0
h-index: 0
机构:
Okayama Med Ctr, Dept Pediat, Okayama, Japan Okayama Univ Hosp, Dept Pediat, Kita Ku, 2-5-1 Shikata Cho, Okayama 7008558, Japan

Higuchi, Yousuke
论文数: 0 引用数: 0
h-index: 0
机构:
Okayama Univ Hosp, Dept Pediat, Okayama, Japan Okayama Univ Hosp, Dept Pediat, Kita Ku, 2-5-1 Shikata Cho, Okayama 7008558, Japan

Yamashita, Miho
论文数: 0 引用数: 0
h-index: 0
机构:
Okayama Univ Hosp, Dept Pediat, Okayama, Japan Okayama Univ Hosp, Dept Pediat, Kita Ku, 2-5-1 Shikata Cho, Okayama 7008558, Japan

Tsukahara, Hirokazu
论文数: 0 引用数: 0
h-index: 0
机构:
Okayama Univ, Grad Sch Med Dent & Pharmaceut Sci, Dept Pediat, Okayama, Japan Okayama Univ Hosp, Dept Pediat, Kita Ku, 2-5-1 Shikata Cho, Okayama 7008558, Japan
[6]
[黄梦甜 Huang Mengtian], 2023, [中华内分泌代谢杂志, Chinese Journal of Endocrinology and Metabolism], V39, P492
[7]
Acromicric Dysplasia Caused by a Novel Heterozygous Mutation of FBN1 and Effects of Growth Hormone Treatment
[J].
Jin, Hyung Suk
;
Song, Ho Young
;
Cho, Sung Yoon
;
Ki, Chang-Seok
;
Yang, Song Hyun
;
Kim, Ok-Hwa
;
Kim, Su Jin
.
ANNALS OF LABORATORY MEDICINE,
2017, 37 (01)
:92-94

Jin, Hyung Suk
论文数: 0 引用数: 0
h-index: 0
机构:
Green Cross Labs, Yongin, South Korea Green Cross Labs, Yongin, South Korea

Song, Ho Young
论文数: 0 引用数: 0
h-index: 0
机构:
Seonam Univ, Coll Med, Myongji Hosp, Dept Pediat, 55 Hwasu Ro 14 Beon Gil, Goyang 10475, South Korea Green Cross Labs, Yongin, South Korea

论文数: 引用数:
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Ki, Chang-Seok
论文数: 0 引用数: 0
h-index: 0
机构:
Sungkyunkwan Univ, Sch Med, Samsung Med Ctr, Dept Lab Med & Genet, Seoul, South Korea Green Cross Labs, Yongin, South Korea

Yang, Song Hyun
论文数: 0 引用数: 0
h-index: 0
机构:
Green Cross Labs, Yongin, South Korea Green Cross Labs, Yongin, South Korea

Kim, Ok-Hwa
论文数: 0 引用数: 0
h-index: 0
机构:
Woorisoa Childrens Hosp, Dept Radiol, Seoul, South Korea Green Cross Labs, Yongin, South Korea

Kim, Su Jin
论文数: 0 引用数: 0
h-index: 0
机构:
Seonam Univ, Coll Med, Myongji Hosp, Dept Pediat, 55 Hwasu Ro 14 Beon Gil, Goyang 10475, South Korea Green Cross Labs, Yongin, South Korea
[8]
Orthopedics Management of Acromicric Dysplasia: Follow Up of Nine Patients
[J].
Klein, Celine
;
Le Goff, Carine
;
Topouchian, Vicken
;
Odent, Sylvie
;
Violas, Philippe
;
Glorion, Christophe
;
Cormier-Daire, Valerie
.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A,
2014, 164 (02)
:331-337

Klein, Celine
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Paris 05, Sorbonne Paris Cite, Hop Necker Enfants Malad, Dept Med Genet,Inst Imagine,INSERM U781, F-75015 Paris, France
Univ Paris 05, Sorbonne Paris Cite, Hop Necker Enfants Malad, Dept Chirurg Orthoped Pediat, F-75015 Paris, France Univ Paris 05, Sorbonne Paris Cite, Hop Necker Enfants Malad, Dept Med Genet,Inst Imagine,INSERM U781, F-75015 Paris, France

Le Goff, Carine
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Paris 05, Sorbonne Paris Cite, Hop Necker Enfants Malad, Dept Med Genet,Inst Imagine,INSERM U781, F-75015 Paris, France Univ Paris 05, Sorbonne Paris Cite, Hop Necker Enfants Malad, Dept Med Genet,Inst Imagine,INSERM U781, F-75015 Paris, France

Topouchian, Vicken
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Paris 05, Sorbonne Paris Cite, Hop Necker Enfants Malad, Dept Chirurg Orthoped Pediat, F-75015 Paris, France Univ Paris 05, Sorbonne Paris Cite, Hop Necker Enfants Malad, Dept Med Genet,Inst Imagine,INSERM U781, F-75015 Paris, France

Odent, Sylvie
论文数: 0 引用数: 0
h-index: 0
机构:
CHU Rennes, Hop Sud, Fac Med,IFR GFAS 140, Serv Genet Clin,Inst Genet & Dev Rennes,CNRS UMR, Rennes, France Univ Paris 05, Sorbonne Paris Cite, Hop Necker Enfants Malad, Dept Med Genet,Inst Imagine,INSERM U781, F-75015 Paris, France

Violas, Philippe
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Hosp, Hop Sud, Dept Pediat Orthopaed Surg, Rennes, France Univ Paris 05, Sorbonne Paris Cite, Hop Necker Enfants Malad, Dept Med Genet,Inst Imagine,INSERM U781, F-75015 Paris, France

Glorion, Christophe
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Paris 05, Sorbonne Paris Cite, Hop Necker Enfants Malad, Dept Chirurg Orthoped Pediat, F-75015 Paris, France Univ Paris 05, Sorbonne Paris Cite, Hop Necker Enfants Malad, Dept Med Genet,Inst Imagine,INSERM U781, F-75015 Paris, France

Cormier-Daire, Valerie
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Paris 05, Sorbonne Paris Cite, Hop Necker Enfants Malad, Dept Med Genet,Inst Imagine,INSERM U781, F-75015 Paris, France Univ Paris 05, Sorbonne Paris Cite, Hop Necker Enfants Malad, Dept Med Genet,Inst Imagine,INSERM U781, F-75015 Paris, France
[9]
Mutations in the TGFβ Binding-Protein-Like Domain 5 of FBN1 Are Responsible for Acromicric and Geleophysic Dysplasias
[J].
Le Goff, Carine
;
Mahaut, Clementine
;
Wang, Lauren W.
;
Allali, Slimane
;
Abhyankar, Avinash
;
Jensen, Sacha
;
Zylberberg, Louise
;
Collod-Beroud, Gwenaelle
;
Bonnet, Damien
;
Alanay, Yasemin
;
Brady, Angela. F.
;
Cordier, Marie-Pierre
;
Devriendt, Koen
;
Genevieve, David
;
Kiper, Pelin Ozlem Simsek
;
Kitoh, Hiroshi
;
Krakow, Deborah
;
Lynch, Sally Ann
;
Le Merrer, Martine
;
Megarbane, Andre
;
Mortier, Geert
;
Odent, Sylvie
;
Polak, Michel
;
Rohrbach, Marianne
;
Sillence, David
;
Stolte-Dijkstra, Irene
;
Superti-Furga, Andrea
;
Rimoin, David L.
;
Topouchian, Vicken
;
Unger, Sheila
;
Zabel, Bernhard
;
Bole-Feysot, Christine
;
Nitschke, Patrick
;
Handford, Penny
;
Casanova, Jean-Laurent
;
Boileau, Catherine
;
Apte, Suneel S.
;
Munnich, Arnold
;
Cormier-Dairel, Valerie
.
AMERICAN JOURNAL OF HUMAN GENETICS,
2011, 89 (01)
:7-14

Le Goff, Carine
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Paris 05, INSERM, Dept Genet, Hop Necker Enfants Malad,U781, F-75015 Paris, France Cleveland Clin Fdn, Lerner Res Inst, Dept Biomed Engn, Cleveland, OH 44195 USA

Mahaut, Clementine
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Paris 05, INSERM, Dept Genet, Hop Necker Enfants Malad,U781, F-75015 Paris, France Cleveland Clin Fdn, Lerner Res Inst, Dept Biomed Engn, Cleveland, OH 44195 USA

Wang, Lauren W.
论文数: 0 引用数: 0
h-index: 0
机构:
Cleveland Clin Fdn, Lerner Res Inst, Dept Biomed Engn, Cleveland, OH 44195 USA Cleveland Clin Fdn, Lerner Res Inst, Dept Biomed Engn, Cleveland, OH 44195 USA

Allali, Slimane
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Paris 05, INSERM, Dept Genet, Hop Necker Enfants Malad,U781, F-75015 Paris, France Cleveland Clin Fdn, Lerner Res Inst, Dept Biomed Engn, Cleveland, OH 44195 USA

论文数: 引用数:
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Jensen, Sacha
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Oxford, Dept Biochem, Oxford OX1 3QU, England Cleveland Clin Fdn, Lerner Res Inst, Dept Biomed Engn, Cleveland, OH 44195 USA

Zylberberg, Louise
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Paris 06, CNRS, UMR71 93, F-75005 Paris, France Cleveland Clin Fdn, Lerner Res Inst, Dept Biomed Engn, Cleveland, OH 44195 USA

Collod-Beroud, Gwenaelle
论文数: 0 引用数: 0
h-index: 0
机构:
INSERM, U827, F-34000 Montpellier, France
Univ Montpellier I, UFR Med, F-34000 Montpellier, France Cleveland Clin Fdn, Lerner Res Inst, Dept Biomed Engn, Cleveland, OH 44195 USA

论文数: 引用数:
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Alanay, Yasemin
论文数: 0 引用数: 0
h-index: 0
机构:
Hacettepe Univ, Fac Med, Dept Pediat, Pediat Genet Unit, TR-06100 Ankara, Turkey Cleveland Clin Fdn, Lerner Res Inst, Dept Biomed Engn, Cleveland, OH 44195 USA

Brady, Angela. F.
论文数: 0 引用数: 0
h-index: 0
机构:
Northwick Pk Hosp & Clin Res Ctr, Harrow HA1 3UJ, Middx, England Cleveland Clin Fdn, Lerner Res Inst, Dept Biomed Engn, Cleveland, OH 44195 USA

Cordier, Marie-Pierre
论文数: 0 引用数: 0
h-index: 0
机构:
Grp Hosp Est, HFME, Serv Genet, F-69677 Bron, France Cleveland Clin Fdn, Lerner Res Inst, Dept Biomed Engn, Cleveland, OH 44195 USA

Devriendt, Koen
论文数: 0 引用数: 0
h-index: 0
机构:
Catholic Univ Louvain, Ctr Human Genet, B-3000 Louvain, Belgium Cleveland Clin Fdn, Lerner Res Inst, Dept Biomed Engn, Cleveland, OH 44195 USA

Genevieve, David
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Montpellier I, INSERM, U844, Dept Med Genet, F-34000 Montpellier, France Cleveland Clin Fdn, Lerner Res Inst, Dept Biomed Engn, Cleveland, OH 44195 USA

Kiper, Pelin Ozlem Simsek
论文数: 0 引用数: 0
h-index: 0
机构:
Hacettepe Univ, Fac Med, Dept Pediat, Pediat Genet Unit, TR-06100 Ankara, Turkey Cleveland Clin Fdn, Lerner Res Inst, Dept Biomed Engn, Cleveland, OH 44195 USA

Kitoh, Hiroshi
论文数: 0 引用数: 0
h-index: 0
机构:
Nagoya Univ, Sch Med, Dept Orthopaed Surg, Aichi 4668550, Japan Cleveland Clin Fdn, Lerner Res Inst, Dept Biomed Engn, Cleveland, OH 44195 USA

Krakow, Deborah
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Calif Los Angeles, David Geffen Sch Med, Dept Orthoped Surg, Los Angeles, CA 90068 USA
Univ Calif Los Angeles, David Geffen Sch Med, Dept Human Genet, Los Angeles, CA 90068 USA Cleveland Clin Fdn, Lerner Res Inst, Dept Biomed Engn, Cleveland, OH 44195 USA

Lynch, Sally Ann
论文数: 0 引用数: 0
h-index: 0
机构:
Our Ladys Childrens Hosp, Natl Ctr Med Genet, Dublin 12, Ireland Cleveland Clin Fdn, Lerner Res Inst, Dept Biomed Engn, Cleveland, OH 44195 USA

Le Merrer, Martine
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Paris 05, INSERM, Dept Genet, Hop Necker Enfants Malad,U781, F-75015 Paris, France Cleveland Clin Fdn, Lerner Res Inst, Dept Biomed Engn, Cleveland, OH 44195 USA

Megarbane, Andre
论文数: 0 引用数: 0
h-index: 0
机构:
Univ St Joseph, Unite Genet Med, Beirut 11042020, Lebanon Cleveland Clin Fdn, Lerner Res Inst, Dept Biomed Engn, Cleveland, OH 44195 USA

论文数: 引用数:
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Odent, Sylvie
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Rennes 1, Hop Sud, Serv Genet Clin, UMR6061, F-35200 Rennes, France Cleveland Clin Fdn, Lerner Res Inst, Dept Biomed Engn, Cleveland, OH 44195 USA

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Rohrbach, Marianne
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Childrens Hosp, Connect Tissue Unit, Div Metab, CH-8032 Zurich, Switzerland Cleveland Clin Fdn, Lerner Res Inst, Dept Biomed Engn, Cleveland, OH 44195 USA

Sillence, David
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Childrens Hosp, Acad Dept Med Genet, Westmead, NSW 2145, Australia Cleveland Clin Fdn, Lerner Res Inst, Dept Biomed Engn, Cleveland, OH 44195 USA

Stolte-Dijkstra, Irene
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Univ Groningen, Univ Med Ctr Groningen, Dept Genet, NL-9713 GZ Groningen, Netherlands Cleveland Clin Fdn, Lerner Res Inst, Dept Biomed Engn, Cleveland, OH 44195 USA

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Rimoin, David L.
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Cedars Sinai Med Ctr, Inst Med Genet, Los Angeles, CA 90048 USA Cleveland Clin Fdn, Lerner Res Inst, Dept Biomed Engn, Cleveland, OH 44195 USA

Topouchian, Vicken
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Hop Necker Enfants Malad, Dept Pediat Orthoped Surg, F-75015 Paris, France Cleveland Clin Fdn, Lerner Res Inst, Dept Biomed Engn, Cleveland, OH 44195 USA

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Zabel, Bernhard
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Univ Freiburg, Freiburg Univ Hosp, Ctr Pediat & Adolescent Med, D-79106 Freiburg, Germany Cleveland Clin Fdn, Lerner Res Inst, Dept Biomed Engn, Cleveland, OH 44195 USA

Bole-Feysot, Christine
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Hop Necker Enfants Malad, Fdn Imagine, F-75015 Paris, France Cleveland Clin Fdn, Lerner Res Inst, Dept Biomed Engn, Cleveland, OH 44195 USA

Nitschke, Patrick
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Handford, Penny
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Univ Oxford, Dept Biochem, Oxford OX1 3QU, England Cleveland Clin Fdn, Lerner Res Inst, Dept Biomed Engn, Cleveland, OH 44195 USA

Casanova, Jean-Laurent
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Rockefeller Univ, Rockefeller Branch, St Giles Lab Human Genet Infect Dis, New York, NY 10065 USA
Univ Paris 05, Necker branch, Lab Human Genet Infect Dis, F-75015 Paris, France
Necker Med Sch, INSERM, U980, F-75015 Paris, France Cleveland Clin Fdn, Lerner Res Inst, Dept Biomed Engn, Cleveland, OH 44195 USA

Boileau, Catherine
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Univ Paris Diderot, INSERM, U698, F-92100 Boulogne, France
Hop Ambroise Pare, AP HP, Lab Biochim & Genet Mol, F-92100 Boulogne, France Cleveland Clin Fdn, Lerner Res Inst, Dept Biomed Engn, Cleveland, OH 44195 USA

Apte, Suneel S.
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Cleveland Clin Fdn, Lerner Res Inst, Dept Biomed Engn, Cleveland, OH 44195 USA Cleveland Clin Fdn, Lerner Res Inst, Dept Biomed Engn, Cleveland, OH 44195 USA

Munnich, Arnold
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Univ Paris 05, INSERM, Dept Genet, Hop Necker Enfants Malad,U781, F-75015 Paris, France Cleveland Clin Fdn, Lerner Res Inst, Dept Biomed Engn, Cleveland, OH 44195 USA

Cormier-Dairel, Valerie
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Univ Paris 05, INSERM, Dept Genet, Hop Necker Enfants Malad,U781, F-75015 Paris, France Cleveland Clin Fdn, Lerner Res Inst, Dept Biomed Engn, Cleveland, OH 44195 USA
[10]
Chondrodysplasias and TGF beta signaling
[J].
Le Goff, Carine
;
Cormier-Daire, Valerie
.
BONEKEY REPORTS,
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Le Goff, Carine
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Paris Descartes Univ, Sorbonne Paris Cite, Dept Genet,Necker Enfants Malades Hosp,Imagine In, INSERM,UMR 1163,Lab Mol & Physiopathol Bases Oste, Paris, France Paris Descartes Univ, Sorbonne Paris Cite, Dept Genet,Necker Enfants Malades Hosp,Imagine In, INSERM,UMR 1163,Lab Mol & Physiopathol Bases Oste, Paris, France

Cormier-Daire, Valerie
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Paris Descartes Univ, Sorbonne Paris Cite, Dept Genet,Necker Enfants Malades Hosp,Imagine In, INSERM,UMR 1163,Lab Mol & Physiopathol Bases Oste, Paris, France Paris Descartes Univ, Sorbonne Paris Cite, Dept Genet,Necker Enfants Malades Hosp,Imagine In, INSERM,UMR 1163,Lab Mol & Physiopathol Bases Oste, Paris, France