Sher Alam Khan

机构：Kohat University of Science and Technology, Women Medical College, Khushal Khan Khattak University Karak · ORCID：0000-0001-5436-8917

发表论文 47 篇 · 总被引 697 次 · h-index 12

代表论文

• Deleterious Variants in WNT10A, EDAR, and EDA Causing Isolated and Syndromic Tooth Agenesis: A Structural Perspective from Molecular Dynamics Simulations (2019 · International Journal of Molecular Sciences · 被引 33)
• Biallelic variants in WARS1 cause a highly variable neurodevelopmental syndrome and implicate a critical exon for normal auditory function (2022 · Human Mutation · 被引 29)
• Genetic Spectrum of Syndromic and Non-Syndromic Hearing Loss in Pakistani Families (2020 · Genes · 被引 16)
• Biallelic Variants in Seven Different Genes Associated with Clinically Suspected Bardet–Biedl Syndrome (2023 · Genes · 被引 11)
• Novel Homozygous Mutations in the Genes TGM1, SULT2B1, SPINK5 and FLG in Four Families Underlying Congenital Ichthyosis (2021 · Genes · 被引 11)
• A novel nonsense variant in SLC24A4 causing a rare form of amelogenesis imperfecta in a Pakistani family (2020 · BMC Medical Genetics · 被引 11)