Phosphorylation-dependent activity-based conformational changes in P21-activated kinase family members and screening of novel ATP competitive inhibitors

por Gul, Mehreen, Fakhar, Muhammad, Najumuddin, Rashid, Sajid
Publicado 2019

Case report: A novel de novo loss of function variant in the DNA-binding domain of TBX2 causes severe osteochondrodysplasia

por Rafeeq, Misbahuddin M., Murad, Hussam Aly Sayed, Najumuddin, Ullah, Samee, Ahmed, Zaheer, Alam, Qamre, Bilal, Muhammad, Habib, Alaa Hamed, Sain, Ziaullah M., Khan, Muhammad Jawad, Umair, Muhammad
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

Novel Variants in MPV17, PRX, GJB1, and SACS Cause Charcot–Marie–Tooth and Spastic Ataxia of Charlevoix–Saguenay Type Diseases

por Zaman, Qaiser, Khan, Muhammad Abbas, Sahar, Kalsoom, Rehman, Gauhar, Khan, Hamza, Rehman, Mehwish, Najumuddin, Ahmad, Ilyas, Tariq, Muhmmad, Muthaffar, Osama Yousef, Abdulkareem, Angham Abdulrhman, Bibi, Fehmida, Naseer, Muhammad Imran, Faisal, Muhammad Shah, Wasif, Naveed, Jelani, Musharraf
Publicado 2023