换一批Refining the phenotype associated with GNB1 mutations: Clinical data on 18 newly identified patients and review of the literature
第一作者：
Hemati, Parisa
作者：
Hemati, Parisa [1]
;
Revah-Politi, Anya [2]
;
Bassan, Haim [3]
;
Petrovski, Slave [4]
;
Bilancia, Colleen G. [5]
;
Ramsey, Keri [6]
;
Griffin, Nicole G. [7]
;
Bier, Louise [8]
;
Cho, Megan T. [9]
;
Rosello, Monica [10]
;
Lynch, Sally Ann [11]
;
Colombo, Sophie [12]
;
Weber, Astrid [13]
;
Haug, Marte [14]
;
Heinzen, Erin L. [15]
;
Sands, Tristan T. [16]
;
Narayanan, Vinodh [17]
;
Primiano, Michelle [18]
;
Aggarwal, Vimla S. [19]
;
Millan, Francisca [20]
;
Sattler-Holtrop, Shannon G. [21]
;
Caro-Llopis, Alfonso [22]
;
Pillar, Nir [23]
;
Baker, Janice ;
Freedman, Rebecca ;
Kroes, Hester Y. ;
Sacharow, Stephanie ;
Stong, Nick ;
Lapunzina, Pablo ;
Schneider, Michael C. ;
Mendelsohn, Nancy J. ;
Singleton, Amanda ;
Ramey, Valerie Loik ;
Wou, Karen ;
Kuzminsky, Alla ;
Monfort, Sandra ;
Weiss, Monica ;
Doyle, Samantha ;
Iglesias, Alejandro ;
Martinez, Francisco ;
Mckenzie, Fiona ;
Orellana, Carmen ;
van Gassen, Koen L. I. ;
Palomares, Maria ;
Bazak, Lily ;
Lee, Andy ;
Bircher, Ana ;
Basel-Vanagaite, Lina ;
Hafstrom, Maria ;
Houge, Gunnar ;
Goldstein, David B. ;
Anyane-Yeboa, Kwame
作者单位：
St Olavs Hosp, Dept Pediat, Trondheim, Norway
[1]
Sackler Fac Med, Assaf Harofe Med Ctr, Pediat Neurol & Dev Ctr, Tel Aviv, Israel
[2]
Carle Physician Grp, Urbana, IL USA
[3]
Temple St Childrens Univ Hosp, Dublin, Ireland
[4]
Childrens Hosp New York Presbyterian, Dept Pediat, New York, NY USA
[5]
Columbia Univ, Med Ctr, Inst Genom Med, New York, NY USA
[6]
Translat Genom Res Inst, Ctr Rare Childhood Disorders, Phoenix, AZ USA
[7]
Boston Childrens Hosp, Div Genet & Genom, Boston, MA USA
[8]
Brentwood Childrens Clin, Brentwood, TN USA
[9]
CUMC, Dept Pediat, Div Clin Genet, New York, NY USA
[10]
Hosp Univ & Politecn La Fe, Unidad Genet, Valencia, Spain
[11]
Govt Western Australia, Dept Hlth, Genet Serv Western Australia, Perth, WA, Australia
[12]
UAM, Hosp Univ Paz, IdiPAZ, INGEMM,Inst Genet Med & Mol, Madrid, Spain
[13]
St Olavs Univ Hosp, Dept Med Genet, Trondheim, Norway
[14]
Columbia Univ, Med Ctr, Dept Pathol & Cell Biol, New York, NY USA
[15]
GeneDx, Gaithersburg, MD USA
[16]
Univ Med Ctr Utrecht, Dept Genet, Utrecht, Netherlands
[17]
Clalit Hlth Serv, Child Dev Ctr, Netanya, Israel
[18]
Childrens Hosp & Clin Minnesota, Genom Med Program, Minneapolis, MN USA
[19]
Liverpool Womens Hosp, Dept Clin Genet, Liverpool, Merseyside, England
[20]
Rabin Med Ctr, Raphael Recanati Genet Inst, Beilinson Campus, Petah Tiqwa, Israel
[21]
Inner Vis Womens Ultrasound & Genet, Nashville, TN USA
[22]
Haukeland Hosp, Ctr Med Genet & Mol Med, Bergen, Norway
[23]
发布时间
2020-04-25
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American journal of medical genetics, Part A
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