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European Journal of Medical Genetics|December 11, 2017
Pakistan Genetic Mutation Database (PGMD); A centralized Pakistani mutome data sourceIqbal Qasim, Bilal Ahmad, Muzammil Ahmad Khan, et al.International Journal of Dermatology|February 15, 2023
Biallelic mutations in FLG, TGM1, and STS genes segregated with different types of ichthyoses in eight families of Pakistani originNiamatullah Khan, Khadim Shah, Fozia Fozia, et al.The Journal of Gene Medicine|September 18, 2023
Molecular insight into CREBBP and TANGO2 variants causing intellectual disabilitySyeda Iqra Hussain, Nazif Muhammad, Niamatullah Khan, et al.International Journal of Dermatology|May 12, 2019
Biallelic mutations in the LPAR6 gene causing autosomal recessive wooly hair/hypotrichosis phenotype in five Pakistani familiesGhulam M Khan, Noor Hassan, Niamatullah Khan, et al.Frontiers in Neurology|June 12, 2023
Autosomal recessive variants c.953A>C and c.97-1G>C in NSUN2 causing intellectual disability: a molecular dynamics simulation study of loss-of-function mechanismsNazif Muhammad, Syeda Iqra Hussain, Zia Ur Rehman, et al.BMC Neurology|October 4, 2023
Structural and functional implications of SLC13A3 and SLC9A6 mutations: an in silico approach to understanding intellectual disabilitySyeda Iqra Hussain, Nazif Muhammad, Salah Ud Din Shah, et al.Genes|May 27, 2023
Biallelic Variants in Seven Different Genes Associated with Clinically Suspected Bardet-Biedl SyndromeHamed Nawaz, Mujahid, Sher Alam Khan, et al.Pageof 1