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Molecular Vision|May 19, 2025
Syndromic forms of inherited retinal dystrophies: a comprehensive molecular diagnosis of consanguineous Pakistani families using capture panel sequencingAleesha Asghar, Sumbal Wazir, Shehzeen Fatima, et al.Biochemical Genetics|May 9, 2025
Molecular Characterization of Oculocutaneous Albinism in Consanguineous Pakistani Families: Unraveling Disease-Causing Pathogenic Variants in OCA2 and TYR Genes for Precision DiagnosisHaiba Kaul, Shagufta Naz, Hafiz Ishfaq Ahmad, et al.Genes|January 8, 2025
Phenotypic and Genetic Heterogeneity of a Pakistani Cohort of 15 Consanguineous Families Segregating Variants in Leber Congenital Amaurosis-Associated GenesZainab Akhtar, Sumaira Altaf, Yumei Li, et al.Frontiers in Genetics|April 24, 2023
Identifying the genetic causes of phenotypically diagnosed Pakistani mucopolysaccharidoses patients by whole genome sequencingRutaba Gul, Sabika Firasat, Mikkel Schubert, et al.Genes|May 27, 2026
Expanding the Mutation Spectrum of Non-Syndromic Retinitis Pigmentosa in Consanguineous Pakistani Families: Unraveling Novel Pathogenic Variants in RP1, PDE6B, and PRCD Genes for Precision DiagnosisTayyaba Shan, Nimra Mukhtar, Sayyed Hammad Ullah, et al.Frontiers in Genetics|September 29, 2023
Identification of genetic variants associated with a wide spectrum of phenotypes clinically diagnosed as Sanfilippo and Morquio syndromes using whole genome sequencingRutaba Gul, Sabika Firasat, Mikkel Schubert, et al.American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|January 29, 2026
Novel Variants Identified in Families With SNX27-Related Neurodevelopmental Disorder, Aiding in Characterizing Its Genotypic and Phenotypic SpectrumTayyaba Shan, Abrar Hussain, Anushree Acharya, et al.Microscopy Research and Technique|December 22, 2024
Resolving Taxonomic Ambiguities in Ascaris Species: Insights From a Scanning Electron Microscopy Study of Ascaris lumbricoidesAmjad Ullah Khan, Sabika Firasat, Khalid Mashay Al-Anazi, et al.Journal of Medical Genetics|July 31, 2025
Biallelic loss-of-function variants in C19orf44 lead to retinal degenerationHafiz Muhammad Jafar Hussain, Wang Meng, Yumei Li, et al.American Journal of Medical Genetics. Part A|July 27, 2025
Challenges in Genomic Variant Interpretation Within Pakistani Populations due to Genomic Healthcare InequalitiesZantasha Khalid, Matthew Adams, Anees Muhammad, et al.Pageof 6