换一批Variants in GNAI1 cause a syndrome associated with variable features including developmental delay, seizures, and hypotonia
第一作者：
Muir, Alison M.
作者：
Muir, Alison M. [1]
;
Gardner, Jennifer F. [2]
;
van Jaarsveld, Richard H. [3]
;
de Lange, Iris M. [4]
;
van der Smagt, Jasper J. [5]
;
Wilson, Golder N. [6]
;
Dubbs, Holly [7]
;
Goldberg, Ethan M. [8]
;
Zitano, Lia [9]
;
Bupp, Caleb [10]
;
Martinez, Jose [11]
;
Srour, Myriam [12]
;
Accogli, Andrea [13]
;
Alhakeem, Afnan [14]
;
Meltzer, Meira [15]
;
Gropman, Andrea [16]
;
Brewer, Carole [17]
;
Caswell, Richard C. [18]
;
Montgomery, Tara [19]
;
McKenna, Caoimhe [20]
;
McKee, Shane [21]
;
Powell, Corinna [22]
;
Vasudevan, Pradeep C. [23]
;
Brady, Angela F. [24]
;
Joss, Shelagh [25]
;
Tysoe, Carolyn [26]
;
Noh, Grace [27]
;
Tarnopolsky, Mark ;
Brady, Lauren ;
Zafar, Muhammad ;
Schrier Vergano, Samantha A. ;
Murray, Brianna ;
Sawyer, Lindsey ;
Hainline, Bryan E. ;
Sapp, Katherine ;
DeMarzo, Danielle ;
Huismann, Darcy J. ;
Wentzensen, Ingrid M. ;
Schnur, Rhonda E. ;
Monaghan, Kristin G. ;
Juusola, Jane ;
Rhodes, Lindsay ;
Dobyns, William B. ;
Lecoquierre, Francois ;
Goldenberg, Alice ;
Polster, Tilman ;
Axer-Schaefer, Susanne ;
Platzer, Konrad ;
Klockner, Chiara ;
Hoffman, Trevor L. ;
MacArthur, Daniel G. ;
O'Leary, Melanie C. ;
VanNoy, Grace E. ;
England, Eleina ;
Varghese, Vinod C. ;
Mefford, Heather C.
作者单位：
Texas Tech Hlth Sci Ctr, Lubbock, TX USA
[1]
Southern Calif Kaiser Permanente Med Grp, Dept Genet, Pasadena, CA USA
[2]
McMaster Childrens Hosp, Dept Pediat, Div Neuromuscular & Neurometab Disorders, Hamilton, ON, Canada
[3]
Indiana Univ Sch Med, Dept Med & Mol Genet, Indianapolis, IN 46202 USA
[4]
GeneDx Inc, Gaithersburg, MD USA
[5]
Rouen Univ Hosp, Rouen, France
[6]
All Wales Med Genom Serv, Cardiff, Wales
[7]
Childrens Hosp Philadelphia, Dept Pediat, Div Neurol, Philadelphia, PA 19104 USA
[8]
Northern Ireland Reg Genet Serv, Exeter, Devon, England
[9]
Univ Hosp Leicester NHS Trust Leicester, Leicester Royal Infirm, Exeter, Devon, England
[10]
Spectrum Hlth Med Genet, Grand Rapids, MI USA
[11]
Univ S Alabama, Div Genet, Dept Pediat & Adolescent Med, Mobile, AL USA
[12]
Univ Med Ctr Utrecht, Dept Genet, Utrecht, Netherlands
[13]
Broad Inst MIT & Harvard, Program Med & Populat Genet, Ctr Mendelian Genom, Cambridge, MA 02142 USA
[14]
Royal Devon & Exeter NHS Fdn Trust, Exeter, Devon, England
[15]
Childrens Hosp Kings Daughters, Norfolk, VA USA
[16]
North West Thames Reg Genet Serv, Northwick Pk, Harrow, Middx, England
[17]
Royal Devon & Exeter NHS Fdn Trust, Exeter Genom Lab, Exeter, Devon, England
[18]
Newcastle Upon Tyne Hosp NHS Fdn Trust, Washington, DC USA
[19]
McGill Univ, Montreal Childrens Hosp, Dept Pediat, Hlth Ctr, Montreal, PQ, Canada
[20]
Univ Oklahoma, Hlth Sci Ctr, Dept Pediat, Genet Sect, Oklahoma City, OK 73190 USA
[21]
Natl Childrens Hosp, Dept Neurol, Washington, DC USA
[22]
Univ Leipzig Med Ctr, Inst Human Genet, Leipzig, Germany
[23]
NHS Greater Glasgow & Clyde, Glasgow, Lanark, Scotland
[24]
Univ Washington, Dept Pediat, Div Med Genet, Seattle, WA 98195 USA
[25]
Duke Univ Hlth Syst, Durham, NC USA
[26]
Paediat Epileptol Krankenhaus Mara Bethel Epileps, Bielefeld, Germany
[27]
发布时间
2021-08-05
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Genetics in medicine
Genetics in medicine
881-887页
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