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

SLC25A42-associated mitochondrial encephalomyopathy: Report of additional founder cases and functional characterization of a novel deletion

SLC25A42 相关线粒体脑肌病:更多创始病例报告和新缺失的功能特征

Mazhor Aldosary, Shahad Baselm, Maha Abdulrahim, Rawan Almass, Maysoon Alsagob, Zainab AlMasseri, Rozeena Huma, Laila AlQuait, Tarfa Al-Shidi, Eman Al-Obeid, Albandary AlBakheet, Basma Alahideb, Lujane Alahaidib, Alya Qari, Robert W Taylor, Dilek Colak, Moeenaldeen D AlSayed, Namik Kaya

Genomic analysis of primordial dwarfism reveals novel disease genes

原始侏儒症的基因组分析揭示了新的疾病基因

Ranad Shaheen, Eissa Faqeih, Shinu Ansari, Ghada Abdel-Salam, Zuhair N Al-Hassnan, Tarfa Al-Shidi, Rana Alomar, Sameera Sogaty, Fowzan S Alkuraya