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

Whole exome sequencing identified a homozygous novel variant in DOP1A gene in the Pakistan family with neurodevelopmental disabilities: case report and literature review.

全外显子组测序在巴基斯坦一个患有神经发育障碍的家庭中发现了 DOP1A 基因的纯合新变异:病例报告和文献综述

Zhang Wei, Tariq Muhammad, Roy Bhaskar, Shen Juan, Khan Ayaz, Altaf Malik Naveed, He Sijie, Baig Shahid Mahmood, Fang Xiaodong, Zhang Jianguo

A novel AP4M1 mutation in autosomal recessive cerebral palsy syndrome and clinical expansion of AP-4 deficiency

常染色体隐性遗传性脑瘫综合征中一种新的AP4M1突变以及AP-4缺陷的临床扩展

Jameel, Muhammad; Klar, Joakim; Tariq, Muhammad; Moawia, Abubakar; Altaf Malik, Naveed; Seema Waseem, Syeda; Abdullah, Uzma; Naeem Khan, Tahir; Raininko, Raili; Baig, Shahid Mahmood; Dahl, Niklas