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Current Genomics|November 14, 2025
Gene Therapy in Rare Genetic Disorders: Current Progress and Future PerspectivesSundus Khawaja, Raja Hussain Ali, Ishtiaq Ahmed, et al.Medicinal Research Reviews|June 11, 2026
Molecular Pharmacology of T-Type Calcium Channels and Their Roles in Neurological DisordersMuhammad Umair, Laurent Ferron, Raja Hussain Ali, et al.BMC Medical Genetics|June 14, 2012
Novel mutations in natriuretic peptide receptor-2 gene underlie acromesomelic dysplasia, type maroteauxSaadullah Khan, Raja Hussain Ali, Sanaullah Abbasi, et al.Clinical Genetics|February 27, 2026
A Novel ATXN7L3 De Novo Variant Underlies Harel-Tora Neurodevelopmental Syndrome (HATONS) With Pre-Axial PolydactylyMuhammad Umair, Zaheer Ahmed, Arif Mahmood, et al.Plos One|August 15, 2014
In silico analysis of missense mutations in LPAR6 reveals abnormal phospholipid signaling pathway leading to hypotrichosisSyed Irfan Raza, Dost Muhammad, Abid Jan, et al.Congenital Anomalies|September 1, 2016
Novel homozygous sequence variants in the GDF5 gene underlie acromesomelic dysplasia type-grebe in consanguineous familiesMuhammad Umair, Afzal Rafique, Asmat Ullah, et al.Molecular Syndromology|June 16, 2023
Sequence Variants in <i>MEGF8</i> and <i>GJA1</i> Underlying SyndactylyMuhammad Bilal, Tobias B Haack, Rebecca Buchert, et al.European Journal of Medical Genetics|August 15, 2018
A novel insertion and deletion mutation in the BHLHA9 underlies polydactyly and mesoaxial synostotic syndactyly with phalangeal reductionAsmat Ullah, Raja Hussain Ali, Ayesha Isani Majeed, et al.Neurogenetics|October 3, 2022
A novel biallelic variant further delineates PRDX3-related autosomal recessive cerebellar ataxiaMisbahuddin M Rafeeq, Muhammad Umair, Muhammad Bilal, et al.Journal of Human Genetics|October 29, 2019
Further evidence of involvement of TMEM132E in autosomal recessive nonsyndromic hearing impairmentKhurram Liaqat, Shabir Hussain, Muhammad Bilal, et al.Pageof 2