Esra Erkut

The Hospital for Sick Children

H指数:7

被引数:256

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A cardiovascular, craniofacial, and neurodevelopmental disorder caused by loss-of-function variants in the eIF3 complex component genes EIF3A and EIF3B

由eIF3复合物成分基因EIF3A和EIF3B的功能缺失变异引起的心血管、颅面和神经发育障碍

The American Journal of Human Genetics

IF0

2026-02-110

OAAI

A cardiovascular, craniofacial, and neurodevelopmental disorder caused by loss-of-function variants in the eIF3 complex component genes EIF3A and EIF3B

由eIF3复合体成分基因EIF3A和EIF3B的失活突变引起的心血管、颅面和神经发育障碍

The American Journal of Human Genetics

IF0

2025-09-300

OAAI

Esra Erkut; Cherith Somerville; Marci L.B. Schwartz; Laura McDonald; Qiliang Ding; Olivia M. Moran; Xin Chen; Roozbeh Manshaei; Anne-Sophie Riedijk; Marie-Therese Schnürer; Daniel C. Koboldt; Stylianos E. Antonarakis; Emma C. Bedoukian; Xavier Blanc; Laura K. Conlin; Helen Cox; Karin E.M. Diderich; Bri Dingmann; Christèle Dubourg; Frances Elmslie; Luis F. Escobar; Rachel Gosselin; Maria J. Guillen Sacoto; Cynthia D. Haag; Lisa Herzig; Ramanand Jeeneea; Priti Kenia; Konstantinos Kolokotronis; Anna M. Kopps; Christin Kupper; Hayley Lees; Jacqueline Leonard; Jonathan Levy; Rebecca Littlejohn; Demian Mayer; Scott D. McLean; Nikhil Pattani; Laurence Perrin; Véronique Pingault; Chloé Quelin; Emmanuelle Ranza; Anita Rauch; Sara L. Reichert; Joana Rosmaninho-Salgado; Cara Skraban; Sérgio Sousa; Melissa Stuebben; Paolo Zanoni; Raymond H. Kim; Ian C. Scott; Rebekah K. Jobling

DG9-conjugated morpholino rescues phenotype in SMA mice by reaching the CNS via a subcutaneous administration

JCI INSIGHT

IF6.1

2023-03-088