Report of Hermansky–Pudlak Syndrome in Two Families with Novel Variants in HPS3 and HPS4 Genes

por Zaman, Qaiser, Sadeeda, Anas, Muhammad, Rehman, Gauhar, Khan, Qadeem, Iftikhar, Aiman, Ahmad, Mashal, Owais, Muhammad, Ahmad, Ilyas, Muthaffar, Osama Yousef, Abdulkareem, Angham Abdulrhman, Bibi, Fehmida, Jelani, Musharraf, Naseer, Muhammad Imran
Publicado 2023

Whole exome sequencing identified five novel variants in CNTN2, CARS2, ARSA, and CLCN4 leading to epilepsy in consanguineous families

por Abdulkareem, Angham Abdulrhman, Zaman, Qaiser, Khan, Hamza, Khan, Sabar, Rehman, Gauhar, Tariq, Nabeel, Ahmad, Mashal, Owais, Muhammad, Najumuddin, Muthaffar, Osama Yousef, Bibi, Fehmida, Khang, Rin, Ryu, Seung Woo, Naseer, Muhammad Imran, Jelani, Musharraf
Publicado 2023