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European Journal of Human Genetics : EJHG|November 9, 2021
Biallelic in-frame deletion of SOX4 is associated with developmental delay, hypotonia and intellectual disabilityAmama Ghaffar, Faiza Rasheed, Muhammad Rashid, et al.Biomolecules|May 27, 2026
Molecular Characterization of Syndromic Hearing Loss in North African Moroccan FamiliesKhawla El Fizazi, Amama Ghaffar, Laila Bouguenouch, et al.Genes|May 25, 2024
A Missense Variant in <i>HACE1</i> Is Associated with Intellectual Disability, Epilepsy, Spasticity, and Psychomotor Impairment in a Pakistani KindredMuhammad A Usmani, Amama Ghaffar, Mohsin Shahzad, et al.Human Genetics|June 21, 2020
Novel loss-of-function mutations in COCH cause autosomal recessive nonsyndromic hearing lossKevin T Booth, Amama Ghaffar, Muhammad Rashid, et al.Human Molecular Genetics|November 10, 2022
Syntaxin 4 is essential for hearing in human and zebrafishIsabelle Schrauwen, Amama Ghaffar, Thashi Bharadwaj, et al.Communications Biology|July 8, 2024
Variants of NAV3, a neuronal morphogenesis protein, cause intellectual disability, developmental delay, and microcephalyAmama Ghaffar, Tehmeena Akhter, Petter Strømme, et al.International Journal of Molecular Sciences|February 26, 2025
A Novel <i>SLPI</i> Splice Variant Confers Susceptibility to Otitis Media in HumansChristina L Elling, Allen F Ryan, Talitha Karisse L Yarza, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 26, 2025
Comprehensive genotypic, phenotypic, and biochemical characterization of GOT2 deficiency: A progressive neurodevelopmental disorder with epilepsy and abnormal movementsHannah M German, Maha S Zaki, Muhammad A Usmani, et al.Pageof 1