日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Biallelic MED29 variants cause pontocerebellar hypoplasia with cataracts

MED29双等位基因变异导致脑桥小脑发育不全伴白内障

Arkush, Leo; van Woerden, Geeske M; Ziv, Limor; Marek-Yagel, Dina; Fonseca, Reginald; Brevé, Esmee; Barel, Ortal; Shalva, Nechama; Veber, Alvit; Anikster, Yair; Ben-Ami Raichman, Dominique; Musallam, Banan; Marcu, Shai; Nissenkorn, Andreea; Mandel, Hanna; Kushner, Steven A; Ben Zeev, Bruria; Heimer, Gali

Congenital dilated cardiomyopathy caused by biallelic mutations in Filamin C.

由丝状蛋白C双等位基因突变引起的先天性扩张型心肌病

Reinstein Eyal, Gutierrez-Fernandez Ana, Tzur Shay, Bormans Concetta, Marcu Shai, Tayeb-Fligelman Einav, Vinkler Chana, Raas-Rothschild Annick, Irge Dana, Landau Meytal, Shohat Mordechai, Puente Xose S, Behar Doron M, Lopez-Otın Carlos