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

Homozygous variants in WDR83OS lead to a neurodevelopmental disorder with hypercholanemia

WDR83OS基因的纯合变异会导致伴有高胆汁酸血症的神经发育障碍。

Barish, Scott; Lin, Sheng-Jia; Maroofian, Reza; Gezdirici, Alper; Alhebby, Hamoud; Trimouille, Aurélien; Biderman Waberski, Marta; Mitani, Tadahiro; Huber, Ilka; Tveten, Kristian; Holla, Øystein L; Busk, Øyvind L; Houlden, Henry; Ghayoor Karimiani, Ehsan; Beiraghi Toosi, Mehran; Shervin Badv, Reza; Najarzadeh Torbati, Paria; Eghbal, Fatemeh; Akhondian, Javad; Al Safar, Ayat; Alswaid, Abdulrahman; Zifarelli, Giovanni; Bauer, Peter; Marafi, Dana; Fatih, Jawid M; Huang, Kevin; Petree, Cassidy; Calame, Daniel G; von der Lippe, Charlotte; Alkuraya, Fowzan S; Wali, Sami; Lupski, James R; Varshney, Gaurav K; Posey, Jennifer E; Pehlivan, Davut