换一批Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsy
第一作者：
Paul, Maimuna S.
作者：
Paul, Maimuna S. [1]
;
Duncan, Anna R. [2]
;
Genetti, Casie A. [3]
;
Pan, Hongling [4]
;
Jackson, Adam [5]
;
Grant, Patricia E. [6]
;
Shi, Jiahai [7]
;
Pinelli, Michele [8]
;
Brunetti-Pierri, Nicola [9]
;
Garza-Flores, Alexandra [10]
;
Shahani, Dave [11]
;
Saneto, Russell P. [12]
;
Zampino, Giuseppe [13]
;
Leoni, Chiara [14]
;
Agolini, Emanuele [15]
;
Novelli, Antonio [16]
;
Bluemlein, Ulrike [17]
;
Haack, Tobias B. [18]
;
Heinritz, Wolfram [19]
;
Matzker, Eva [20]
;
Alhaddad, Bader [21]
;
Abou Jamra, Rami [22]
;
Bartolomaeus, Tobias [23]
;
AlHamdan, Saber ;
Carapito, Raphael ;
Isidor, Bertrand ;
Bahram, Seiamak ;
Ritter, Alyssa ;
Izumi, Kosuke ;
Shakked, Ben Pode ;
Barel, Ortal ;
Ben Zeev, Bruria ;
Begtrup, Amber ;
Carere, Deanna Alexis ;
Mullegama, Sureni, V ;
Palculict, Timothy Blake ;
Calame, Daniel G. ;
Schwan, Katharina ;
Aycinena, Alicia R. P. ;
Traberg, Rasa ;
Douzgou, Sofia ;
Pirt, Harrison ;
Ismayilova, Naila ;
Banka, Siddharth ;
Chao, Hsiao-Tuan ;
Agrawal, Pankaj B. ;
Genomics England Res Consortium
作者单位：
Baylor College of Medicine,Baylor Coll Med
[1]
Harvard University,Boston Childrens Hosp
[2]
Baylor College of Medicine,Texas Childrens Hosp
[3]
Yong Loo Lin Sch Med,Natl Univ Singapore
[4]
Telethon Inst Genet & Med
[5]
Dept Clin Genet,Cook Childrens Hosp
[6]
Dept Neurol & Epileptol,Cook Childrens Hosp
[7]
Seattle Childrens Hosp,Univ Washington
[8]
Ctr Rare Dis & Birth Defects,Fdn Policlin Univ A Gemelli
[9]
Translat Cytogen Res Unit,Bambino Gesu Pediat Hosp
[10]
Dept Pediat,Carl Thiem Klinikum Cottbus
[11]
Kaiser Permanente
[12]
Dept Genet & Mol Med,Hosp Lithuanian Univ Hlth Sci Kauno Klin
[13]
Dept Paediat Neurol,Chelsea & Westminster NHS Fdn Trust
[14]
Inst Human Genet,Tech Univ Munich
[15]
Praxis Humangenet Cottbus
[16]
Inst Human Genet,Univ Leipzig Med Ctr
[17]
Lab ImmunoRhumatol Mol,ITI TRANSPLANTEX NG,Univ Strasbourg
[18]
Serv Genet Med,Ctr Hosp Univ Nantes
[19]
Dept Pediat,Childrens Hosp Philadelphia
[20]
Sheba Med Ctr,Edmond & Lilly Safra Childrens Hosp
[21]
Clin Genom Program,GeneDx
[22]
Dept Pediat,Baylor Coll Med
[23]
发布时间
2023-06-13
- 浏览2
The American Journal of Human Genetics
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