换一批Bi-allelic variants in neuronal cell adhesion molecule cause a neurodevelopmental disorder characterized by developmental delay, hypotonia, neuropathy/spasticity
第一作者：
Kurolap, Alina
作者：
Kurolap, Alina [1]
;
Kreuder, Florian [2]
;
Gonzaga-Jauregui, Claudia [3]
;
Duvdevani, Morasha Plesser [4]
;
Harel, Tamar [5]
;
Tammer, Luna [6]
;
Xin, Baozhong [7]
;
Bakhtiari, Somayeh [8]
;
Rice, James [9]
;
van Eyk, Clare L. [10]
;
Gecz, Jozef [11]
;
Mah, Jean K. [12]
;
Atkinson, Derek [13]
;
Cope, Heidi [14]
;
Sullivan, Jennifer A. [15]
;
Douek, Alon M. [16]
;
Colquhoun, Daniel [17]
;
Henry, Jason [18]
;
Wlodkowic, Donald [19]
;
Parman, Yesim [20]
;
Candayan, Ayse ;
Kocasoy-Orhan, Elif ;
Ilivitzki, Anat ;
Soudry, Shiri ;
Leibu, Rina ;
Glaser, Fabian ;
Sency, Valerie ;
Ast, Gil ;
Shashi, Vandana ;
Fahey, Michael C. ;
Battalog, Esra ;
Jordanova, Albena ;
Meiner, Vardiella ;
Innes, A. Micheil ;
Wang, Heng ;
Elpeleg, Orly ;
Kruer, Michael C. ;
Kaslin, Jan ;
Feldman, Hagit Baris ;
Undiagnosed Dis Network
作者单位：
Genet Inst,Tel Aviv Sourasky Med Ctr
[1]
Australian Regenerat Med Inst,Monash Univ
[2]
Regeneron Genet Ctr,Regeneron Pharmaceut Inc
[3]
Dept Genet,Hadassah Med Ctr
[4]
Dept Human Mol Genet & Biochem,Tel Aviv Univ
[5]
DDC Clin,Ctr Special Needs Children
[6]
Barrow Neurol Inst,Phoenix Childrens Hosp
[7]
Paediat Rehabil,Womens & Childrens Hosp
[8]
Cumming Sch Med,Univ Calgary
[9]
Max Planck Inst Immunobiol & Epigenet
[10]
Med Ctr,Duke Univ
[11]
Sch Sci,RMIT Univ
[12]
Dept Neurol,Istanbul Univ
[13]
Dept Mol Biol & Genet,Bogazici Univ
[14]
Pediat Radiol Unit,Rambam Hlth Care Campus
[15]
Ruth & Bruce Rappaport Fac Med,Technion Israel Inst Technol
[16]
Dept Ophthalmol,Rambam Hlth Care Campus
[17]
Lorry I Lokey Interdisciplinary Ctr Life Sci & En,Technion Israel Inst Technol
[18]
Dept Pediat,Monash Univ
[19]
Mol Neurogen Grp,Univ Antwerp
[20]
发布时间
2022-09-16
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