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h-index: 0
机构:
Juliana Childrens Hosp, HAGA Med Ctr, Dept Child Neurol, The Hague, Netherlands Huazhong Univ Sci & Technol, Coll Life Sci & Technol, Ctr Human Genome Res, Key Lab Mol Biophys,Minist Educ, Wuhan, Peoples R China

Xiong, Hongbo
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Huazhong Univ Sci & Technol, Coll Life Sci & Technol, Ctr Human Genome Res, Key Lab Mol Biophys,Minist Educ, Wuhan, Peoples R China Huazhong Univ Sci & Technol, Coll Life Sci & Technol, Ctr Human Genome Res, Key Lab Mol Biophys,Minist Educ, Wuhan, Peoples R China

Bai, Xuemei
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Huazhong Univ Sci & Technol, Coll Life Sci & Technol, Ctr Human Genome Res, Key Lab Mol Biophys,Minist Educ, Wuhan, Peoples R China Huazhong Univ Sci & Technol, Coll Life Sci & Technol, Ctr Human Genome Res, Key Lab Mol Biophys,Minist Educ, Wuhan, Peoples R China

Xu, Chengqi
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Huazhong Univ Sci & Technol, Coll Life Sci & Technol, Ctr Human Genome Res, Key Lab Mol Biophys,Minist Educ, Wuhan, Peoples R China Huazhong Univ Sci & Technol, Coll Life Sci & Technol, Ctr Human Genome Res, Key Lab Mol Biophys,Minist Educ, Wuhan, Peoples R China

Ke, Tie
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Huazhong Univ Sci & Technol, Coll Life Sci & Technol, Ctr Human Genome Res, Key Lab Mol Biophys,Minist Educ, Wuhan, Peoples R China Huazhong Univ Sci & Technol, Coll Life Sci & Technol, Ctr Human Genome Res, Key Lab Mol Biophys,Minist Educ, Wuhan, Peoples R China

Wang, Qing K.
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Huazhong Univ Sci & Technol, Coll Life Sci & Technol, Ctr Human Genome Res, Key Lab Mol Biophys,Minist Educ, Wuhan, Peoples R China Huazhong Univ Sci & Technol, Coll Life Sci & Technol, Ctr Human Genome Res, Key Lab Mol Biophys,Minist Educ, Wuhan, Peoples R China
[40]
De novo loss-of-function KCNMA1 variants are associated with a new multiple malformation syndrome and a broad spectrum of developmental and neurological phenotypes
[J].
Liang, Lina
;
Li, Xia
;
Moutton, Sebastien
;
Vergano, Samantha A. Schrier
;
Cogne, Benjamin
;
Saint-Martin, de Anne
;
Hurst, Anna C. E.
;
Hu, Yushuang
;
Bodamer, Olaf
;
Thevenon, Julien
;
Hung, Christina Y.
;
Isidor, Bertrand
;
Gerard, Benedicte
;
Rega, Adelaide
;
Nambot, Sophie
;
Lehalle, Daphne
;
Duffourd, Yannis
;
Thauvin-Robinet, Christel
;
Faivre, Laurence
;
Bezieau, Stephane
;
Dure, Leon S.
;
Helbling, Daniel C.
;
Bick, David
;
Xu, Chengqi
;
Chen, Qiuyun
;
Mancini, Grazia M. S.
;
Vitobello, Antonio
;
Wang, Qing Kenneth
.
HUMAN MOLECULAR GENETICS,
2019, 28 (17)
:2937-2951

Liang, Lina
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机构:
Huazhong Univ Sci & Technol, Coll Life Sci & Technol, Ctr Human Genome Res, Key Lab Mol Biophys,Minist Educ,Cardio X Inst, Wuhan 430074, Hubei, Peoples R China Huazhong Univ Sci & Technol, Coll Life Sci & Technol, Ctr Human Genome Res, Key Lab Mol Biophys,Minist Educ,Cardio X Inst, Wuhan 430074, Hubei, Peoples R China

Li, Xia
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机构:
Huazhong Univ Sci & Technol, Coll Life Sci & Technol, Ctr Human Genome Res, Key Lab Mol Biophys,Minist Educ,Cardio X Inst, Wuhan 430074, Hubei, Peoples R China
Univ Michigan, Life Sci Inst, Ann Arbor, MI 48109 USA Huazhong Univ Sci & Technol, Coll Life Sci & Technol, Ctr Human Genome Res, Key Lab Mol Biophys,Minist Educ,Cardio X Inst, Wuhan 430074, Hubei, Peoples R China

Moutton, Sebastien
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h-index: 0
机构:
Hop Enfants, Ctr Reference Anomalies Dev & Syndromes Malformat, F-21079 Dijon, France
Hop Enfants, Ctr Reference Deficiences Intellectuelles Causes, F-21079 Dijon, France
Univ Bourgogne Franche Comte, Inserm UMR 1231, GAD Team, Genet Dev Disorders, F-21070 Dijon, France Huazhong Univ Sci & Technol, Coll Life Sci & Technol, Ctr Human Genome Res, Key Lab Mol Biophys,Minist Educ,Cardio X Inst, Wuhan 430074, Hubei, Peoples R China

Vergano, Samantha A. Schrier
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h-index: 0
机构:
Childrens Hosp Kings Daughters, Eastern Virginia Med Sch, Med Genet & Metab, Norfolk, VA 23507 USA Huazhong Univ Sci & Technol, Coll Life Sci & Technol, Ctr Human Genome Res, Key Lab Mol Biophys,Minist Educ,Cardio X Inst, Wuhan 430074, Hubei, Peoples R China

Cogne, Benjamin
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h-index: 0
机构:
CHU Nantes, Serv Genet Med, F-44093 Nantes, France Huazhong Univ Sci & Technol, Coll Life Sci & Technol, Ctr Human Genome Res, Key Lab Mol Biophys,Minist Educ,Cardio X Inst, Wuhan 430074, Hubei, Peoples R China

Saint-Martin, de Anne
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h-index: 0
机构:
Hop Univ Strasbourg, Ctr Reference Epilepsies Rares, Neuropediat, F-67098 Strasbourg, France Huazhong Univ Sci & Technol, Coll Life Sci & Technol, Ctr Human Genome Res, Key Lab Mol Biophys,Minist Educ,Cardio X Inst, Wuhan 430074, Hubei, Peoples R China

Hurst, Anna C. E.
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h-index: 0
机构:
Univ Alabama Birmingham, Dept Genet, Birmingham, AL 35294 USA Huazhong Univ Sci & Technol, Coll Life Sci & Technol, Ctr Human Genome Res, Key Lab Mol Biophys,Minist Educ,Cardio X Inst, Wuhan 430074, Hubei, Peoples R China

Hu, Yushuang
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Huazhong Univ Sci & Technol, Coll Life Sci & Technol, Ctr Human Genome Res, Key Lab Mol Biophys,Minist Educ,Cardio X Inst, Wuhan 430074, Hubei, Peoples R China Huazhong Univ Sci & Technol, Coll Life Sci & Technol, Ctr Human Genome Res, Key Lab Mol Biophys,Minist Educ,Cardio X Inst, Wuhan 430074, Hubei, Peoples R China

Bodamer, Olaf
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h-index: 0
机构:
Harvard Med Sch, Boston Childrens Hosp, Div Genet & Genom, Boston, MA 02115 USA
Broad Inst MIT & Harvard, Boston, MA 02115 USA Huazhong Univ Sci & Technol, Coll Life Sci & Technol, Ctr Human Genome Res, Key Lab Mol Biophys,Minist Educ,Cardio X Inst, Wuhan 430074, Hubei, Peoples R China

Thevenon, Julien
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机构:
Hop Enfants, Ctr Reference Anomalies Dev & Syndromes Malformat, F-21079 Dijon, France
Hop Enfants, Ctr Reference Deficiences Intellectuelles Causes, F-21079 Dijon, France
Univ Bourgogne Franche Comte, Inserm UMR 1231, GAD Team, Genet Dev Disorders, F-21070 Dijon, France Huazhong Univ Sci & Technol, Coll Life Sci & Technol, Ctr Human Genome Res, Key Lab Mol Biophys,Minist Educ,Cardio X Inst, Wuhan 430074, Hubei, Peoples R China

Hung, Christina Y.
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机构:
Harvard Med Sch, Boston Childrens Hosp, Div Genet & Genom, Boston, MA 02115 USA Huazhong Univ Sci & Technol, Coll Life Sci & Technol, Ctr Human Genome Res, Key Lab Mol Biophys,Minist Educ,Cardio X Inst, Wuhan 430074, Hubei, Peoples R China

Isidor, Bertrand
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机构:
CHU Nantes, Serv Genet Med, F-44093 Nantes, France Huazhong Univ Sci & Technol, Coll Life Sci & Technol, Ctr Human Genome Res, Key Lab Mol Biophys,Minist Educ,Cardio X Inst, Wuhan 430074, Hubei, Peoples R China

Gerard, Benedicte
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h-index: 0
机构:
Nouvel Hop Civil, Unite Genet Mol, Lab Diagnost Genet, Inst Genet Med Alsace, F-67000 Strasbourg, France Huazhong Univ Sci & Technol, Coll Life Sci & Technol, Ctr Human Genome Res, Key Lab Mol Biophys,Minist Educ,Cardio X Inst, Wuhan 430074, Hubei, Peoples R China

Rega, Adelaide
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h-index: 0
机构:
CHU Dijon, Dept Radiol & Imagerie Diagnost & Therapeut, F-21079 Dijon, France Huazhong Univ Sci & Technol, Coll Life Sci & Technol, Ctr Human Genome Res, Key Lab Mol Biophys,Minist Educ,Cardio X Inst, Wuhan 430074, Hubei, Peoples R China

Nambot, Sophie
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h-index: 0
机构:
Hop Enfants, Ctr Reference Anomalies Dev & Syndromes Malformat, F-21079 Dijon, France
Hop Enfants, Ctr Reference Deficiences Intellectuelles Causes, F-21079 Dijon, France
Univ Bourgogne Franche Comte, Inserm UMR 1231, GAD Team, Genet Dev Disorders, F-21070 Dijon, France Huazhong Univ Sci & Technol, Coll Life Sci & Technol, Ctr Human Genome Res, Key Lab Mol Biophys,Minist Educ,Cardio X Inst, Wuhan 430074, Hubei, Peoples R China

Lehalle, Daphne
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h-index: 0
机构:
Hop Enfants, Ctr Reference Anomalies Dev & Syndromes Malformat, F-21079 Dijon, France
Hop Enfants, Ctr Reference Deficiences Intellectuelles Causes, F-21079 Dijon, France
Univ Bourgogne Franche Comte, Inserm UMR 1231, GAD Team, Genet Dev Disorders, F-21070 Dijon, France Huazhong Univ Sci & Technol, Coll Life Sci & Technol, Ctr Human Genome Res, Key Lab Mol Biophys,Minist Educ,Cardio X Inst, Wuhan 430074, Hubei, Peoples R China

Duffourd, Yannis
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h-index: 0
机构:
Hop Enfants, Ctr Reference Anomalies Dev & Syndromes Malformat, F-21079 Dijon, France
Hop Enfants, Ctr Reference Deficiences Intellectuelles Causes, F-21079 Dijon, France
Univ Bourgogne Franche Comte, Inserm UMR 1231, GAD Team, Genet Dev Disorders, F-21070 Dijon, France Huazhong Univ Sci & Technol, Coll Life Sci & Technol, Ctr Human Genome Res, Key Lab Mol Biophys,Minist Educ,Cardio X Inst, Wuhan 430074, Hubei, Peoples R China

Thauvin-Robinet, Christel
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机构:
Hop Enfants, Ctr Reference Anomalies Dev & Syndromes Malformat, F-21079 Dijon, France
Hop Enfants, Ctr Reference Deficiences Intellectuelles Causes, F-21079 Dijon, France
Univ Bourgogne Franche Comte, Inserm UMR 1231, GAD Team, Genet Dev Disorders, F-21070 Dijon, France Huazhong Univ Sci & Technol, Coll Life Sci & Technol, Ctr Human Genome Res, Key Lab Mol Biophys,Minist Educ,Cardio X Inst, Wuhan 430074, Hubei, Peoples R China

Faivre, Laurence
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h-index: 0
机构:
Hop Enfants, Ctr Reference Anomalies Dev & Syndromes Malformat, F-21079 Dijon, France
Hop Enfants, Ctr Reference Deficiences Intellectuelles Causes, F-21079 Dijon, France
Univ Bourgogne Franche Comte, Inserm UMR 1231, GAD Team, Genet Dev Disorders, F-21070 Dijon, France Huazhong Univ Sci & Technol, Coll Life Sci & Technol, Ctr Human Genome Res, Key Lab Mol Biophys,Minist Educ,Cardio X Inst, Wuhan 430074, Hubei, Peoples R China

Bezieau, Stephane
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h-index: 0
机构:
CHU Nantes, Serv Genet Med, F-44093 Nantes, France Huazhong Univ Sci & Technol, Coll Life Sci & Technol, Ctr Human Genome Res, Key Lab Mol Biophys,Minist Educ,Cardio X Inst, Wuhan 430074, Hubei, Peoples R China

Dure, Leon S.
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h-index: 0
机构:
Univ Alabama Birmingham, Dept Pediat & Neurol, Birmingham, AL 35233 USA Huazhong Univ Sci & Technol, Coll Life Sci & Technol, Ctr Human Genome Res, Key Lab Mol Biophys,Minist Educ,Cardio X Inst, Wuhan 430074, Hubei, Peoples R China

Helbling, Daniel C.
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h-index: 0
机构:
HudsonAlpha Inst Biotechnol, Clin Serv Lab, Huntsville, AL 35806 USA Huazhong Univ Sci & Technol, Coll Life Sci & Technol, Ctr Human Genome Res, Key Lab Mol Biophys,Minist Educ,Cardio X Inst, Wuhan 430074, Hubei, Peoples R China

Bick, David
论文数: 0 引用数: 0
h-index: 0
机构:
HudsonAlpha Inst Biotechnol, Clin Serv Lab, Huntsville, AL 35806 USA Huazhong Univ Sci & Technol, Coll Life Sci & Technol, Ctr Human Genome Res, Key Lab Mol Biophys,Minist Educ,Cardio X Inst, Wuhan 430074, Hubei, Peoples R China

Xu, Chengqi
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h-index: 0
机构:
Huazhong Univ Sci & Technol, Coll Life Sci & Technol, Ctr Human Genome Res, Key Lab Mol Biophys,Minist Educ,Cardio X Inst, Wuhan 430074, Hubei, Peoples R China Huazhong Univ Sci & Technol, Coll Life Sci & Technol, Ctr Human Genome Res, Key Lab Mol Biophys,Minist Educ,Cardio X Inst, Wuhan 430074, Hubei, Peoples R China

Chen, Qiuyun
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h-index: 0
机构:
Case Western Reserve Univ, Cleveland Clin Lerner Coll Med, Dept Cardiovasc Med,Cleveland Clin,Dept Mol Med, Dept Cardiovasc & Metab Sci,Lerner Res Inst, Cleveland, OH 44195 USA Huazhong Univ Sci & Technol, Coll Life Sci & Technol, Ctr Human Genome Res, Key Lab Mol Biophys,Minist Educ,Cardio X Inst, Wuhan 430074, Hubei, Peoples R China

Mancini, Grazia M. S.
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h-index: 0
机构:
Erasmus MC, Dept Clin Genet, NL-3015 Rotterdam, Netherlands Huazhong Univ Sci & Technol, Coll Life Sci & Technol, Ctr Human Genome Res, Key Lab Mol Biophys,Minist Educ,Cardio X Inst, Wuhan 430074, Hubei, Peoples R China

Vitobello, Antonio
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Bourgogne Franche Comte, Inserm UMR 1231, GAD Team, Genet Dev Disorders, F-21070 Dijon, France Huazhong Univ Sci & Technol, Coll Life Sci & Technol, Ctr Human Genome Res, Key Lab Mol Biophys,Minist Educ,Cardio X Inst, Wuhan 430074, Hubei, Peoples R China

Wang, Qing Kenneth
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h-index: 0
机构:
Huazhong Univ Sci & Technol, Coll Life Sci & Technol, Ctr Human Genome Res, Key Lab Mol Biophys,Minist Educ,Cardio X Inst, Wuhan 430074, Hubei, Peoples R China
Case Western Reserve Univ, Cleveland Clin Lerner Coll Med, Dept Cardiovasc Med,Cleveland Clin,Dept Mol Med, Dept Cardiovasc & Metab Sci,Lerner Res Inst, Cleveland, OH 44195 USA
Case Western Reserve Univ, Sch Med, Dept Genet & Genome Sci, Cleveland, OH 44106 USA Huazhong Univ Sci & Technol, Coll Life Sci & Technol, Ctr Human Genome Res, Key Lab Mol Biophys,Minist Educ,Cardio X Inst, Wuhan 430074, Hubei, Peoples R China