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

Biallelic variants identified in 36 Pakistani families and trios with autism spectrum disorder

在 36 个患有自闭症谱系障碍的巴基斯坦家庭和三人组中发现双等位基因变异

Hamid Khan, Ricardo Harripaul, Anna Mikhailov, Sumayah Herzi, Sonya Bowers, Muhammad Ayub, Muhammad Imran Shabbir, John B Vincent

Mutational spectrum associated with oculocutaneous albinism and Hermansky-Pudlak syndrome in nine Pakistani families

九个巴基斯坦家庭中与眼皮肤白化病和 Hermansky-Pudlak 综合征相关的突变谱

Jahangir Khan, Saaim Asif, Shamsul Ghani, Hamid Khan, Muhammad Waqar Arshad, Shujaat Ali Khan, Siying Lin, Emma L Baple, Claire Salter, Andrew H Crosby, Lettie Rawlins, Muhammad Imran Shabbir

FRMD7 Gene Alterations in a Pakistani Family Associated with Congenital Idiopathic Nystagmus

巴基斯坦一家人发现 FRMD7 基因变异与先天性特发性眼球震颤有关

Muhammad Waqar Arshad, Muhammad Imran Shabbir, Saaim Asif, Mohsin Shahzad, Larissa Leydier, Sunil Kumar Rai