Identification of a novel protein truncating mutation p.Asp98* in XPC associated with xeroderma pigmentosum in a consanguineous Pakistani family

por Ali, Muhammad Z., Blatterer, Jasmin, Khan, Muzammil A., Schaflinger, Erich, Petek, Erwin, Ahmad, Safeer, Khan, Ejazullah, Windpassinger, Christian
Publicado 2020

Identification of GLI1 and KIAA0825 Variants in Two Families with Postaxial Polydactyly

por Ahmad, Safeer, Ali, Muhammad Zeeshan, Muzammal, Muhammad, Khan, Amjad Ullah, Ikram, Muhammad, Muurinen, Mari, Hussain, Shabir, Loid, Petra, Khan, Muzammil Ahmad, Mäkitie, Outi
Publicado 2023

A novel protein truncating mutation in L2HGDH causes L-2-hydroxyglutaric aciduria in a consanguineous Pakistani family

por Muzammal, Muhammad, Ali, Muhammad Zeeshan, Brugger, Beatrice, Blatterer, Jasmin, Ahmad, Safeer, Taj, Sundas, Shah, Syed Khizar, Khan, Saadullah, Enzinger, Christian, Petek, Erwin, Wagner, Klaus, Khan, Muzammil Ahmad, Windpassinger, Christian
Publicado 2021

A GHRHR founder mutation causes isolated growth hormone deficiency type IV in a consanguineous Pakistani family

por Ahmad, Safeer, Ali, Muhammad Zeeshan, Abbasi, Sumra Wajid, Abbas, Safdar, Ahmed, Iftikhar, Abbas, Shakil, Nawaz, Shoaib, Ziab, Mubarak, Ahmed, Ikhlak, Fakhro, Khalid A., Khan, Muzammil Ahmad, Akil, Ammira Al-Shabeeb
Publicado 2023

In Silico Analysis Identified Putative Pathogenic Missense nsSNPs in Human SLITRK1 Gene

por Ali, Muhammad Zeeshan, Farid, Arshad, Ahmad, Safeer, Muzammal, Muhammad, Mohaini, Mohammed Al, Alsalman, Abdulkhaliq J., Al Hawaj, Maitham A., Alhashem, Yousef N., Alsaleh, Abdulmonem A., Almusalami, Eman M., Maryam, Mahpara, Khan, Muzammil Ahmad
Publicado 2022