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BMC Medical Genetics|February 6, 2016
Homozygosity mapping identified a novel protein truncating mutation (p.Ser100Leufs*24) of the BBS9 gene in a consanguineous Pakistani family with Bardet Biedl syndromeMuzammil Ahmad Khan, Sumitra Mohan, Muhammad Zubair, et al.Annals of Human Genetics|April 21, 2021
Alopecia-mental retardation syndrome: Molecular genetics of a rare neuro-dermal disorderMuhammad Muzammal, Safeer Ahmad, Muhammad Zeeshan Ali, et al.European Journal of Medical Genetics|March 2, 2016
Genetics of human isolated acromesomelic dysplasiaSaadullah Khan, Sulman Basit, Muzammil Ahmad Khan, et al.Journal of the College of Physicians and Surgeons--Pakistan : JCPSP|June 30, 2019
Clinical Biomarkers for Diagnosis of Damages in Individuals with Long-Term Exposure to X-RaysKhurram Rehman, Ghulam Mustafa, Muzammil Ahmad Khan, et al.Molecular Genetics and Genomics : MGG|July 30, 2022
The molecular genetics of human appendicular skeletonSafeer Ahmad, Muhammad Zeeshan Ali, Muhammad Muzammal, et al.JPMA. the Journal of the Pakistan Medical Association|December 20, 2020
Expression analysis of tumour necrosis factor alpha (TNF-α) and alkaline phosphatase in occupational workers exposed to low dose of X-radiation: A case-control studyKhurram Rehman, Ghulam Mustafa, Hina Ayub, et al.Annals of Human Genetics|November 22, 2016
The Molecular Genetics of Autosomal Recessive Nonsyndromic Intellectual Disability: a Mutational Continuum and Future RecommendationsMuzammil Ahmad Khan, Saadullah Khan, Christian Windpassinger, et al.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.Nucleosides, Nucleotides & Nucleic Acids|May 8, 2024
Current updates on genetic spectrum of usher syndromeFarman Ullah, Muhammad Zeeshan Ali, Safeer Ahmad, et al.Nucleosides, Nucleotides & Nucleic Acids|March 25, 2025
Like pashtun like haplogroupJabbar Khan, Zia Ur Rehman, Zafar Uddin, et al.Pageof 6