Dana Jaber

发表

Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita

A. Munnich, C. Fallet-Bianco, I. Gut, 2021, Journal of Medical Genetics.

Broadening the phenotypic spectrum of TUBA1A tubulinopathy to syndromic arthrogryposis multiplex congenita

J. Melki, J. Steffann, F. Encha-Razavi, 2022, American journal of medical genetics. Part A.

De novo mutations of SCN1A are responsible for arthrogryposis broadening the SCN1A-related phenotypes

C. Fallet-Bianco, J. Melki, A. Laquérriere, 2020, Journal of Medical Genetics.