共 26 条
[1]
Wiedemann-Steiner syndrome: Novel pathogenic variant and review of literature
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Aggarwal, Anjali
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Rodriguez-Buritica, David F.
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Northrup, Hope
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EUROPEAN JOURNAL OF MEDICAL GENETICS,
2017, 60 (06)
:285-288

Aggarwal, Anjali
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Texas Hlth Sci Ctr Houston, McGovern Med Sch, Dept Pediat, Div Med Genet, 6431 Fannin St, Houston, TX 77030 USA Univ Texas Hlth Sci Ctr Houston, McGovern Med Sch, Dept Pediat, Div Med Genet, 6431 Fannin St, Houston, TX 77030 USA

Rodriguez-Buritica, David F.
论文数: 0 引用数: 0
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机构:
Univ Texas Hlth Sci Ctr Houston, McGovern Med Sch, Dept Pediat, Div Med Genet, 6431 Fannin St, Houston, TX 77030 USA Univ Texas Hlth Sci Ctr Houston, McGovern Med Sch, Dept Pediat, Div Med Genet, 6431 Fannin St, Houston, TX 77030 USA

Northrup, Hope
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Texas Hlth Sci Ctr Houston, McGovern Med Sch, Dept Pediat, Div Med Genet, 6431 Fannin St, Houston, TX 77030 USA Univ Texas Hlth Sci Ctr Houston, McGovern Med Sch, Dept Pediat, Div Med Genet, 6431 Fannin St, Houston, TX 77030 USA
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[Anonymous], 2001, INT CLASS FUNCT HLTH
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[Anonymous], 2013, How to use the ICF A Practical Manual for using the International Classification of Functioning, Disability and Health (ICF) How to use the ICF A Practical Manual for using the International Classification of Functioning, Disability and Health (ICF) Expos
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Wiedemann-Steiner syndrome as a major cause of syndromic intellectual disability: A study of 33 French cases
[J].
Baer, S.
;
Afenjar, A.
;
Smol, T.
;
Piton, A.
;
Gerard, B.
;
Alembik, Y.
;
Bienvenu, T.
;
Boursier, G.
;
Boute, O.
;
Colson, C.
;
Cordier, M. -P.
;
Cormier-Daire, V.
;
Delobel, B.
;
Doco-Fenzy, M.
;
Duban-Bedu, B.
;
Fradin, M.
;
Genevieve, D.
;
Goldenberg, A.
;
Grelet, M.
;
Haye, D.
;
Heron, D.
;
Isidor, B.
;
Keren, B.
;
Lacombe, D.
;
Lebre, A. -S.
;
Lesca, G.
;
Masurel, A.
;
Mathieu-Dramard, M.
;
Nava, C.
;
Pasquier, L.
;
Petit, A.
;
Philip, N.
;
Piard, J.
;
Rondeau, S.
;
Saugier-Veber, P.
;
Sukno, S.
;
Thevenon, J.
;
Van-Gils, J.
;
Vincent-Delorme, C.
;
Willems, M.
;
Schaefer, E.
;
Morin, G.
.
CLINICAL GENETICS,
2018, 94 (01)
:141-152

Baer, S.
论文数: 0 引用数: 0
h-index: 0
机构:
Hop Univ Strasbourg, Inst Genet Med Alsace, Serv Genet Med, Strasbourg, France
Hop Univ Strasbourg, Lab Diagnost Genet, Strasbourg, France Hop Univ Strasbourg, Inst Genet Med Alsace, Serv Genet Med, Strasbourg, France

Afenjar, A.
论文数: 0 引用数: 0
h-index: 0
机构:
Hop Armand Trousseau La Roche Guyon, AP HP, Unite Genet, Paris, France Hop Univ Strasbourg, Inst Genet Med Alsace, Serv Genet Med, Strasbourg, France

Smol, T.
论文数: 0 引用数: 0
h-index: 0
机构:
CHRU Lille, Inst Genet Med, Hop Jeanne de Flandre, Lille, France Hop Univ Strasbourg, Inst Genet Med Alsace, Serv Genet Med, Strasbourg, France

Piton, A.
论文数: 0 引用数: 0
h-index: 0
机构:
Hop Univ Strasbourg, Lab Diagnost Genet, Strasbourg, France Hop Univ Strasbourg, Inst Genet Med Alsace, Serv Genet Med, Strasbourg, France

Gerard, B.
论文数: 0 引用数: 0
h-index: 0
机构:
Hop Univ Strasbourg, Lab Diagnost Genet, Strasbourg, France Hop Univ Strasbourg, Inst Genet Med Alsace, Serv Genet Med, Strasbourg, France

Alembik, Y.
论文数: 0 引用数: 0
h-index: 0
机构:
Hop Univ Strasbourg, Inst Genet Med Alsace, Serv Genet Med, Strasbourg, France Hop Univ Strasbourg, Inst Genet Med Alsace, Serv Genet Med, Strasbourg, France

Bienvenu, T.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Paris 05, CNRS, Inst Cochin,INSERM, U1016,UMR8104, Paris, France Hop Univ Strasbourg, Inst Genet Med Alsace, Serv Genet Med, Strasbourg, France

Boursier, G.
论文数: 0 引用数: 0
h-index: 0
机构:
CHRU Montpellier, Dept Genet Med, Lab Genet Mol Malad Auto Inflammatoires & Malad R, Montpellier, France Hop Univ Strasbourg, Inst Genet Med Alsace, Serv Genet Med, Strasbourg, France

Boute, O.
论文数: 0 引用数: 0
h-index: 0
机构:
CHRU Lille, Serv Genet Clin, Lille, France Hop Univ Strasbourg, Inst Genet Med Alsace, Serv Genet Med, Strasbourg, France

Colson, C.
论文数: 0 引用数: 0
h-index: 0
机构:
CHRU Lille, Serv Genet Clin, Lille, France Hop Univ Strasbourg, Inst Genet Med Alsace, Serv Genet Med, Strasbourg, France

Cordier, M. -P.
论文数: 0 引用数: 0
h-index: 0
机构:
Hosp Civils Lyon, Serv Genet Med, Lyon, France Hop Univ Strasbourg, Inst Genet Med Alsace, Serv Genet Med, Strasbourg, France

Cormier-Daire, V.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Paris 05, Hop Necker Enfants Malad,AP HP, Inst Imagine,Sorbonne Paris Cite, Dept Genet,INSERM,UMR1163, Paris, France Hop Univ Strasbourg, Inst Genet Med Alsace, Serv Genet Med, Strasbourg, France

Delobel, B.
论文数: 0 引用数: 0
h-index: 0
机构:
Inst Catholique Lille, Ctr Genet Chromosom, Grp Hosp, Lille, France Hop Univ Strasbourg, Inst Genet Med Alsace, Serv Genet Med, Strasbourg, France

Doco-Fenzy, M.
论文数: 0 引用数: 0
h-index: 0
机构:
CHU Reims, Serv Genet, Reims, France Hop Univ Strasbourg, Inst Genet Med Alsace, Serv Genet Med, Strasbourg, France

Duban-Bedu, B.
论文数: 0 引用数: 0
h-index: 0
机构:
Inst Catholique Lille, Ctr Genet Chromosom, Grp Hosp, Lille, France Hop Univ Strasbourg, Inst Genet Med Alsace, Serv Genet Med, Strasbourg, France

Fradin, M.
论文数: 0 引用数: 0
h-index: 0
机构:
CHU Rennes, Serv Genet Clin, Rennes, France Hop Univ Strasbourg, Inst Genet Med Alsace, Serv Genet Med, Strasbourg, France

Genevieve, D.
论文数: 0 引用数: 0
h-index: 0
机构:
CHRU Montpellier, Fac Med Montpellier Nimes, Dept Genet Med, INSERM,U1183, Montpellier, France Hop Univ Strasbourg, Inst Genet Med Alsace, Serv Genet Med, Strasbourg, France

Goldenberg, A.
论文数: 0 引用数: 0
h-index: 0
机构:
CHU Rouen, Serv Genet Med, Rouen, France Hop Univ Strasbourg, Inst Genet Med Alsace, Serv Genet Med, Strasbourg, France

Grelet, M.
论文数: 0 引用数: 0
h-index: 0
机构:
Assistance Publ Hop Marseille, Dept Genet Med, Marseille, France Hop Univ Strasbourg, Inst Genet Med Alsace, Serv Genet Med, Strasbourg, France

Haye, D.
论文数: 0 引用数: 0
h-index: 0
机构:
CHU Paris GH La Pitie Salpetriere Charles Foix, Serv Genet Clin, Unite Fonct Genet Med, Paris, France Hop Univ Strasbourg, Inst Genet Med Alsace, Serv Genet Med, Strasbourg, France

Heron, D.
论文数: 0 引用数: 0
h-index: 0
机构:
CHU Paris GH La Pitie Salpetriere Charles Foix, Serv Genet Clin, Unite Fonct Genet Med, Paris, France Hop Univ Strasbourg, Inst Genet Med Alsace, Serv Genet Med, Strasbourg, France

Isidor, B.
论文数: 0 引用数: 0
h-index: 0
机构:
CHU Nantes, Serv Genet Med, Nantes, France Hop Univ Strasbourg, Inst Genet Med Alsace, Serv Genet Med, Strasbourg, France

Keren, B.
论文数: 0 引用数: 0
h-index: 0
机构:
CHU Paris GH La Pitie Salpetriere Charles Foix, Ctr Genet Mol & Chromosom, Unite Fonct Genom Dev, Paris, France Hop Univ Strasbourg, Inst Genet Med Alsace, Serv Genet Med, Strasbourg, France

Lacombe, D.
论文数: 0 引用数: 0
h-index: 0
机构:
CHU Bordeaux, Dept Genet Med, Bordeaux, France Hop Univ Strasbourg, Inst Genet Med Alsace, Serv Genet Med, Strasbourg, France

Lebre, A. -S.
论文数: 0 引用数: 0
h-index: 0
机构:
CHU Reims, Serv Genet & Biol Reprod, Lab Genet, Reims, France Hop Univ Strasbourg, Inst Genet Med Alsace, Serv Genet Med, Strasbourg, France

Lesca, G.
论文数: 0 引用数: 0
h-index: 0
机构:
Hosp Civils Lyon, Serv Genet Med, Lyon, France Hop Univ Strasbourg, Inst Genet Med Alsace, Serv Genet Med, Strasbourg, France

Masurel, A.
论文数: 0 引用数: 0
h-index: 0
机构:
Hop Enfants, CHU Dijon, Ctr Genet, Dijon, France Hop Univ Strasbourg, Inst Genet Med Alsace, Serv Genet Med, Strasbourg, France

Mathieu-Dramard, M.
论文数: 0 引用数: 0
h-index: 0
机构:
CHU Amiens Picardie, Serv Genet Clin, Amiens, France Hop Univ Strasbourg, Inst Genet Med Alsace, Serv Genet Med, Strasbourg, France

Nava, C.
论文数: 0 引用数: 0
h-index: 0
机构:
CHU Paris GH La Pitie Salpetriere Charles Foix, Ctr Genet Mol & Chromosom, Unite Fonct Genom Dev, Paris, France Hop Univ Strasbourg, Inst Genet Med Alsace, Serv Genet Med, Strasbourg, France

Pasquier, L.
论文数: 0 引用数: 0
h-index: 0
机构:
CHU Rennes, Serv Genet Clin, Rennes, France Hop Univ Strasbourg, Inst Genet Med Alsace, Serv Genet Med, Strasbourg, France

Petit, A.
论文数: 0 引用数: 0
h-index: 0
机构:
CHU Amiens Picardie, Serv Genet Clin, Amiens, France Hop Univ Strasbourg, Inst Genet Med Alsace, Serv Genet Med, Strasbourg, France

Philip, N.
论文数: 0 引用数: 0
h-index: 0
机构:
Assistance Publ Hop Marseille, Dept Genet Med, Marseille, France Hop Univ Strasbourg, Inst Genet Med Alsace, Serv Genet Med, Strasbourg, France

Piard, J.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Franche Comte, CHU Besancon, Ctr Genet Humaine, Besancon, France Hop Univ Strasbourg, Inst Genet Med Alsace, Serv Genet Med, Strasbourg, France

Rondeau, S.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Paris 05, Hop Necker Enfants Malad,AP HP, Inst Imagine,Sorbonne Paris Cite, Dept Genet,INSERM,UMR1163, Paris, France Hop Univ Strasbourg, Inst Genet Med Alsace, Serv Genet Med, Strasbourg, France

论文数: 引用数:
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Sukno, S.
论文数: 0 引用数: 0
h-index: 0
机构:
Hop St Vincent de Paul, Grp Hosp,Inst Catholique Lillois, Fac Libre Med, Serv Neuropediat, Lille, France Hop Univ Strasbourg, Inst Genet Med Alsace, Serv Genet Med, Strasbourg, France

Thevenon, J.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Bourgogne, Equipe Accueil 4271, Genet Anomalies Dev, Dijon, France Hop Univ Strasbourg, Inst Genet Med Alsace, Serv Genet Med, Strasbourg, France

Van-Gils, J.
论文数: 0 引用数: 0
h-index: 0
机构:
CHU Bordeaux, Dept Genet Med, Bordeaux, France Hop Univ Strasbourg, Inst Genet Med Alsace, Serv Genet Med, Strasbourg, France

Vincent-Delorme, C.
论文数: 0 引用数: 0
h-index: 0
机构:
CHRU Lille, Serv Genet Clin, Lille, France Hop Univ Strasbourg, Inst Genet Med Alsace, Serv Genet Med, Strasbourg, France

Willems, M.
论文数: 0 引用数: 0
h-index: 0
机构:
CHRU Montpellier, Fac Med Montpellier Nimes, Dept Genet Med, INSERM,U1183, Montpellier, France Hop Univ Strasbourg, Inst Genet Med Alsace, Serv Genet Med, Strasbourg, France

Schaefer, E.
论文数: 0 引用数: 0
h-index: 0
机构:
Hop Univ Strasbourg, Inst Genet Med Alsace, Serv Genet Med, Strasbourg, France Hop Univ Strasbourg, Inst Genet Med Alsace, Serv Genet Med, Strasbourg, France

Morin, G.
论文数: 0 引用数: 0
h-index: 0
机构:
CHU Amiens Picardie, Serv Genet Clin, Amiens, France Hop Univ Strasbourg, Inst Genet Med Alsace, Serv Genet Med, Strasbourg, France
[6]
Early-onset primary antibody deficiency resembling common variable immunodeficiency challenges the diagnosis of Wiedeman-Steiner and Roifman syndromes
[J].
Bogaert, Delfien J.
;
Dullaers, Melissa
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Kuehn, Hye Sun
;
Leroy, Bart P.
;
Niemela, Julie E.
;
De Wilde, Hans
;
De Schryver, Sarah
;
De Bruyne, Marieke
;
Coppieters, Frauke
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Lambrecht, Bart N.
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De Baets, Frans
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Rosenzweig, Sergio D.
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De Baere, Elfride
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Haerynck, Filomeen
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SCIENTIFIC REPORTS,
2017, 7

Bogaert, Delfien J.
论文数: 0 引用数: 0
h-index: 0
机构:
Ghent Univ Hosp, Clin Immunol Res Lab, Dept Pulm Med, Ctr Primary Immunodeficiency,Jeffrey Modell Diag, Ghent, Belgium
Ghent Univ Hosp, Dept Paediat Immunol & Pulmonol, Ctr Primary Immunodeficiency, Jeffrey Modell Diag & Res Ctr, Ghent, Belgium
Univ Ghent, Ctr Med Genet, Ghent, Belgium
Ghent Univ Hosp, Ghent, Belgium
VIB Inflammat Res Ctr, Lab Immunoregulat, Ghent, Belgium Ghent Univ Hosp, Clin Immunol Res Lab, Dept Pulm Med, Ctr Primary Immunodeficiency,Jeffrey Modell Diag, Ghent, Belgium

Dullaers, Melissa
论文数: 0 引用数: 0
h-index: 0
机构:
Ghent Univ Hosp, Clin Immunol Res Lab, Dept Pulm Med, Ctr Primary Immunodeficiency,Jeffrey Modell Diag, Ghent, Belgium
VIB Inflammat Res Ctr, Lab Immunoregulat, Ghent, Belgium
Univ Ghent, Dept Internal Med, Ghent, Belgium Ghent Univ Hosp, Clin Immunol Res Lab, Dept Pulm Med, Ctr Primary Immunodeficiency,Jeffrey Modell Diag, Ghent, Belgium

Kuehn, Hye Sun
论文数: 0 引用数: 0
h-index: 0
机构:
NIH, Immunol Serv, Dept Lab Med, Ctr Clin, Bethesda, MD USA Ghent Univ Hosp, Clin Immunol Res Lab, Dept Pulm Med, Ctr Primary Immunodeficiency,Jeffrey Modell Diag, Ghent, Belgium

论文数: 引用数:
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Niemela, Julie E.
论文数: 0 引用数: 0
h-index: 0
机构:
NIH, Immunol Serv, Dept Lab Med, Ctr Clin, Bethesda, MD USA Ghent Univ Hosp, Clin Immunol Res Lab, Dept Pulm Med, Ctr Primary Immunodeficiency,Jeffrey Modell Diag, Ghent, Belgium

De Wilde, Hans
论文数: 0 引用数: 0
h-index: 0
机构:
Ghent Univ Hosp, Dept Paediat Cardiol, Ghent, Belgium Ghent Univ Hosp, Clin Immunol Res Lab, Dept Pulm Med, Ctr Primary Immunodeficiency,Jeffrey Modell Diag, Ghent, Belgium

De Schryver, Sarah
论文数: 0 引用数: 0
h-index: 0
机构:
Montreal Childrens Hosp, Dept Paediat Allergy & Immunol, Montreal, PQ, Canada Ghent Univ Hosp, Clin Immunol Res Lab, Dept Pulm Med, Ctr Primary Immunodeficiency,Jeffrey Modell Diag, Ghent, Belgium

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论文数: 引用数:
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Lambrecht, Bart N.
论文数: 0 引用数: 0
h-index: 0
机构:
VIB Inflammat Res Ctr, Lab Immunoregulat, Ghent, Belgium
Univ Ghent, Dept Internal Med, Ghent, Belgium
Ghent Univ Hosp, Dept Pulmonol, Ghent, Belgium Ghent Univ Hosp, Clin Immunol Res Lab, Dept Pulm Med, Ctr Primary Immunodeficiency,Jeffrey Modell Diag, Ghent, Belgium

De Baets, Frans
论文数: 0 引用数: 0
h-index: 0
机构: Ghent Univ Hosp, Clin Immunol Res Lab, Dept Pulm Med, Ctr Primary Immunodeficiency,Jeffrey Modell Diag, Ghent, Belgium

Rosenzweig, Sergio D.
论文数: 0 引用数: 0
h-index: 0
机构:
NIH, Immunol Serv, Dept Lab Med, Ctr Clin, Bethesda, MD USA Ghent Univ Hosp, Clin Immunol Res Lab, Dept Pulm Med, Ctr Primary Immunodeficiency,Jeffrey Modell Diag, Ghent, Belgium

De Baere, Elfride
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Ghent, Ctr Med Genet, Ghent, Belgium Ghent Univ Hosp, Clin Immunol Res Lab, Dept Pulm Med, Ctr Primary Immunodeficiency,Jeffrey Modell Diag, Ghent, Belgium

Haerynck, Filomeen
论文数: 0 引用数: 0
h-index: 0
机构:
Ghent Univ Hosp, Clin Immunol Res Lab, Dept Pulm Med, Ctr Primary Immunodeficiency,Jeffrey Modell Diag, Ghent, Belgium
Ghent Univ Hosp, Dept Paediat Immunol & Pulmonol, Ctr Primary Immunodeficiency, Jeffrey Modell Diag & Res Ctr, Ghent, Belgium Ghent Univ Hosp, Clin Immunol Res Lab, Dept Pulm Med, Ctr Primary Immunodeficiency,Jeffrey Modell Diag, Ghent, Belgium
[7]
A Case of Wiedemann-Steiner Syndrome Associated with a 46,XY Disorder of Sexual Development and Gonadal Dysgenesis
[J].
Calvel, Pierre
;
Kusz-Zamelczyk, Kamila
;
Makrythanasis, Periklis
;
Janecki, Damian
;
Borel, Christelle
;
Conne, Beatrice
;
Vannier, Anne
;
Bena, Frederique
;
Gimelli, Stefania
;
Fichna, Piotr
;
Antonarakis, Stylianos E.
;
Nef, Serge
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Jaruzelska, Jadwiga
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SEXUAL DEVELOPMENT,
2015, 9 (05)
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Calvel, Pierre
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Geneva, Sch Med, Dept Genet Med & Dev, 1 Rue Michel Servet, CH-1211 Geneva 4, Switzerland
Univ Geneva, Inst Genet & Genom Geneva, iGE3, CH-1211 Geneva 4, Switzerland Univ Geneva, Sch Med, Dept Genet Med & Dev, 1 Rue Michel Servet, CH-1211 Geneva 4, Switzerland

Kusz-Zamelczyk, Kamila
论文数: 0 引用数: 0
h-index: 0
机构:
Polish Acad Sci, Inst Human Genet, PL-60479 Poznan, Poland Univ Geneva, Sch Med, Dept Genet Med & Dev, 1 Rue Michel Servet, CH-1211 Geneva 4, Switzerland

Makrythanasis, Periklis
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Geneva, Sch Med, Dept Genet Med & Dev, 1 Rue Michel Servet, CH-1211 Geneva 4, Switzerland
Univ Geneva, Inst Genet & Genom Geneva, iGE3, CH-1211 Geneva 4, Switzerland Univ Geneva, Sch Med, Dept Genet Med & Dev, 1 Rue Michel Servet, CH-1211 Geneva 4, Switzerland

Janecki, Damian
论文数: 0 引用数: 0
h-index: 0
机构:
Polish Acad Sci, Inst Human Genet, PL-60479 Poznan, Poland Univ Geneva, Sch Med, Dept Genet Med & Dev, 1 Rue Michel Servet, CH-1211 Geneva 4, Switzerland

Borel, Christelle
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Geneva, Sch Med, Dept Genet Med & Dev, 1 Rue Michel Servet, CH-1211 Geneva 4, Switzerland
Univ Geneva, Inst Genet & Genom Geneva, iGE3, CH-1211 Geneva 4, Switzerland Univ Geneva, Sch Med, Dept Genet Med & Dev, 1 Rue Michel Servet, CH-1211 Geneva 4, Switzerland

Conne, Beatrice
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Geneva, Sch Med, Dept Genet Med & Dev, 1 Rue Michel Servet, CH-1211 Geneva 4, Switzerland
Univ Geneva, Inst Genet & Genom Geneva, iGE3, CH-1211 Geneva 4, Switzerland Univ Geneva, Sch Med, Dept Genet Med & Dev, 1 Rue Michel Servet, CH-1211 Geneva 4, Switzerland

Vannier, Anne
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Geneva, Sch Med, Dept Genet Med & Dev, 1 Rue Michel Servet, CH-1211 Geneva 4, Switzerland
Univ Geneva, Inst Genet & Genom Geneva, iGE3, CH-1211 Geneva 4, Switzerland Univ Geneva, Sch Med, Dept Genet Med & Dev, 1 Rue Michel Servet, CH-1211 Geneva 4, Switzerland

Bena, Frederique
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Geneva, Sch Med, Dept Genet Med & Dev, 1 Rue Michel Servet, CH-1211 Geneva 4, Switzerland
Univ Geneva, Inst Genet & Genom Geneva, iGE3, CH-1211 Geneva 4, Switzerland Univ Geneva, Sch Med, Dept Genet Med & Dev, 1 Rue Michel Servet, CH-1211 Geneva 4, Switzerland

Gimelli, Stefania
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Geneva, Sch Med, Dept Genet Med & Dev, 1 Rue Michel Servet, CH-1211 Geneva 4, Switzerland
Univ Geneva, Inst Genet & Genom Geneva, iGE3, CH-1211 Geneva 4, Switzerland Univ Geneva, Sch Med, Dept Genet Med & Dev, 1 Rue Michel Servet, CH-1211 Geneva 4, Switzerland

Fichna, Piotr
论文数: 0 引用数: 0
h-index: 0
机构:
Poznan Univ Med Sci, Dept Pediat Diabet & Obes, Poznan, Poland Univ Geneva, Sch Med, Dept Genet Med & Dev, 1 Rue Michel Servet, CH-1211 Geneva 4, Switzerland

Antonarakis, Stylianos E.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Geneva, Sch Med, Dept Genet Med & Dev, 1 Rue Michel Servet, CH-1211 Geneva 4, Switzerland
Univ Geneva, Inst Genet & Genom Geneva, iGE3, CH-1211 Geneva 4, Switzerland Univ Geneva, Sch Med, Dept Genet Med & Dev, 1 Rue Michel Servet, CH-1211 Geneva 4, Switzerland

Nef, Serge
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Geneva, Sch Med, Dept Genet Med & Dev, 1 Rue Michel Servet, CH-1211 Geneva 4, Switzerland
Univ Geneva, Inst Genet & Genom Geneva, iGE3, CH-1211 Geneva 4, Switzerland Univ Geneva, Sch Med, Dept Genet Med & Dev, 1 Rue Michel Servet, CH-1211 Geneva 4, Switzerland

Jaruzelska, Jadwiga
论文数: 0 引用数: 0
h-index: 0
机构:
Polish Acad Sci, Inst Human Genet, PL-60479 Poznan, Poland Univ Geneva, Sch Med, Dept Genet Med & Dev, 1 Rue Michel Servet, CH-1211 Geneva 4, Switzerland
[8]
Expanding the neurodevelopmental phenotypes of individuals with de novo KMT2A variants
[J].
Chan, Ada J. S.
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Cytrynbaum, Cheryl
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Hoang, Ny
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Ambrozewicz, Patricia M.
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Weksberg, Rosanna
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Drmic, Irene
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Ritzema, Anne
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Schachar, Russell
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Walker, Susan
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Uddin, Mohammed
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Zarrei, Mehdi
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Yuen, Ryan K. C.
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Scherer, Stephen W.
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NPJ GENOMIC MEDICINE,
2019, 4 (1)

Chan, Ada J. S.
论文数: 0 引用数: 0
h-index: 0
机构:
Hosp Sick Children, Ctr Appl Genom Genet & Genome Biol, Toronto, ON, Canada
Univ Toronto, Dept Mol Genet, Toronto, ON, Canada Hosp Sick Children, Ctr Appl Genom Genet & Genome Biol, Toronto, ON, Canada

Cytrynbaum, Cheryl
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Univ Toronto, Dept Mol Genet, Toronto, ON, Canada
Hosp Sick Children, Dept Pediat, Div Clin & Metab Genet, Toronto, ON, Canada
Hosp Sick Children, Program Genet & Genome Biol, Toronto, ON, Canada
Hosp Sick Children, Dept Genet Counselling, Toronto, ON, Canada Hosp Sick Children, Ctr Appl Genom Genet & Genome Biol, Toronto, ON, Canada

Hoang, Ny
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Univ Toronto, Dept Mol Genet, Toronto, ON, Canada
Hosp Sick Children, Dept Pediat, Div Clin & Metab Genet, Toronto, ON, Canada
Hosp Sick Children, Program Genet & Genome Biol, Toronto, ON, Canada
Hosp Sick Children, Dept Genet Counselling, Toronto, ON, Canada
Hosp Sick Children, Autism Res Unit, Toronto, ON, Canada Hosp Sick Children, Ctr Appl Genom Genet & Genome Biol, Toronto, ON, Canada

Ambrozewicz, Patricia M.
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Hosp Sick Children, Autism Res Unit, Toronto, ON, Canada
Hosp Sick Children, Dept Psychol, Toronto, ON, Canada Hosp Sick Children, Ctr Appl Genom Genet & Genome Biol, Toronto, ON, Canada

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Drmic, Irene
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Hamilton Hlth Serv, Ron Joyce Childrens Hlth Ctr, Hamilton, ON, Canada Hosp Sick Children, Ctr Appl Genom Genet & Genome Biol, Toronto, ON, Canada

Ritzema, Anne
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Hosp Sick Children, Autism Res Unit, Toronto, ON, Canada
Hosp Sick Children, Dept Psychol, Toronto, ON, Canada Hosp Sick Children, Ctr Appl Genom Genet & Genome Biol, Toronto, ON, Canada

Schachar, Russell
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Hosp Sick Children, Dept Psychiat, Toronto, ON, Canada
Univ Toronto, Dept Psychiat, Toronto, ON, Canada Hosp Sick Children, Ctr Appl Genom Genet & Genome Biol, Toronto, ON, Canada

Walker, Susan
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Hosp Sick Children, Ctr Appl Genom Genet & Genome Biol, Toronto, ON, Canada Hosp Sick Children, Ctr Appl Genom Genet & Genome Biol, Toronto, ON, Canada

Uddin, Mohammed
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Hosp Sick Children, Ctr Appl Genom Genet & Genome Biol, Toronto, ON, Canada
Mohammed Bin Rashid Univ Med & Hlth Sci, Coll Med, Dubai, U Arab Emirates Hosp Sick Children, Ctr Appl Genom Genet & Genome Biol, Toronto, ON, Canada

Zarrei, Mehdi
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Hosp Sick Children, Ctr Appl Genom Genet & Genome Biol, Toronto, ON, Canada Hosp Sick Children, Ctr Appl Genom Genet & Genome Biol, Toronto, ON, Canada

Yuen, Ryan K. C.
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Hosp Sick Children, Ctr Appl Genom Genet & Genome Biol, Toronto, ON, Canada
Univ Toronto, Dept Mol Genet, Toronto, ON, Canada
Hosp Sick Children, Program Genet & Genome Biol, Toronto, ON, Canada Hosp Sick Children, Ctr Appl Genom Genet & Genome Biol, Toronto, ON, Canada

Scherer, Stephen W.
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Hosp Sick Children, Ctr Appl Genom Genet & Genome Biol, Toronto, ON, Canada
Univ Toronto, Dept Mol Genet, Toronto, ON, Canada
Hosp Sick Children, Program Genet & Genome Biol, Toronto, ON, Canada
Univ Toronto, Inst Med Sci, Toronto, ON, Canada
Univ Toronto, McLaughin Ctr, Toronto, ON, Canada Hosp Sick Children, Ctr Appl Genom Genet & Genome Biol, Toronto, ON, Canada
[9]
A De Novo Mutation in KMT2A (MLL) in Monozygotic Twins with Wiedemann-Steiner Syndrome
[J].
Dunkerton, Sophie
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Dunkerton, Sophie
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机构:
Univ Newcastle, Callaghan, NSW 2308, Australia Univ Newcastle, Callaghan, NSW 2308, Australia

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Cho, Vicki
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h-index: 0
机构:
Australian Natl Univ, John Curtin Sch Med Res, Dept Immunol, Canberra, ACT 2601, Australia Univ Newcastle, Callaghan, NSW 2308, Australia

Bertram, Edward
论文数: 0 引用数: 0
h-index: 0
机构:
Australian Natl Univ, Australian Phen Facil, Canberra, ACT, Australia Univ Newcastle, Callaghan, NSW 2308, Australia

Whittle, Belinda
论文数: 0 引用数: 0
h-index: 0
机构:
Australian Natl Univ, Australian Phen Facil, Canberra, ACT, Australia Univ Newcastle, Callaghan, NSW 2308, Australia

Groves, Alexandra
论文数: 0 引用数: 0
h-index: 0
机构:
Hunter Genet, Waratah, NSW, Australia Univ Newcastle, Callaghan, NSW 2308, Australia

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[10]
Jones WD, 2017, THESIS