换一批Unique variants in CLCN3, encoding an endosomal anion/proton exchanger, underlie a spectrum of neurodevelopmental disorders
第一作者：
Duncan, Anna R.
作者：
Duncan, Anna R. [1]
;
Polovitskaya, Maya M. [2]
;
Gaitan-Penas, Hector [3]
;
Bertelli, Sara [4]
;
VanNoy, Grace E. [5]
;
Grant, Patricia E. [6]
;
O'Donnell-Luria, Anne [7]
;
Valivullah, Zaheer [8]
;
Lovgren, Alysia Kern [9]
;
England, Elaina M. [10]
;
Agolini, Emanuele [11]
;
Madden, Jill A. [12]
;
Schmitz-Abe, Klaus [13]
;
Kritzer, Amy [14]
;
Hawley, Pamela [15]
;
Novelli, Antonio [16]
;
Alfieri, Paolo [17]
;
Colafati, Giovanna Stefania [18]
;
Wieczorek, Dagmar ;
Platzer, Konrad ;
Luppe, Johannes ;
Koch-Hogrebe, Margarete ;
Abou Jamra, Rami ;
Neira-Fresneda, Juanita ;
Lehman, Anna ;
Boerkoel, Cornelius F. ;
Seath, Kimberly ;
Clarke, Lorne ;
van Ierland, Yvette ;
Argilli, Emanuela ;
Sherr, Elliott H. ;
Maiorana, Andrea ;
Diel, Thilo ;
Hempel, Maja ;
Bierhals, Tatjana ;
Estevez, Raul ;
Jentsch, Thomas J. ;
Pusch, Michael ;
Agrawal, Pankaj B. ;
CAUSES Study
作者单位：
Dept Pediat,Boston Childrens Hosp
[1]
Leibniz Forschungsinst Mol Pharmakol FMP
[2]
CIBERER,Univ Barcelona
[3]
Ist Biofis
[4]
Program Med & Populat Genet,Broad Inst MIT & Harvard
[5]
IRCCS,Bambino Gesu Pediat Hosp
[6]
Manton Ctr Orphan Dis Res,Boston Childrens Hosp
[7]
Oncol Neuroradiol Unit,Bambino Gesu Pediat Hosp
[8]
Med Fac,Heinrich Heine Univ
[9]
Inst Human Genet,Univ Leipzig
[10]
Vest Kinder & Jugendklin Datteln,Univ Witten Herdecke
[11]
Dept Human Genet,Emory Univ
[12]
Dept Med Genet,Univ British Columbia
[13]
Dept Clin Genet,Erasmus MC
[14]
Dept Neurol,Univ Calif San Francisco
[15]
Neonatol,Osped San Giovanni Calibita Fatebenefratelli
[16]
Div Neonatol & Pediat Crit Care Med,Univ Med Ctr Hamburg Eppendorf
[17]
Inst Human Genet,Univ Med Ctr Hamburg Eppendorf
[18]
发布时间
2022-10-29
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