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Journal of Pediatric Endocrinology & Metabolism : JPEM|February 13, 2020
Identification of two novel variants in GAA underlying infantile-onset Pompe disease in two Pakistani familiesAman Ullah, Bibi Zubaida, Huma Arshad Cheema, et al.Journal of Pediatric Endocrinology & Metabolism : JPEM|September 2, 2019
Genetic testing of two Pakistani patients affected with rare autosomal recessive Fanconi-Bickel syndrome and identification of a novel SLC2A2 splice site variantHajira Batool, Bibi Zubaida, Muhammad Almas Hashmi, et al.Clinical Biochemistry|May 31, 2019
Spectrum of UGT1A1 variants in Pakistani children affected with inherited unconjugated hyperbilirubinemiasBibi Zubaida, Huma Arshad Cheema, Muhammad Almas Hashmi, et al.Acta Epileptologica|April 11, 2025
Identification of a pathogenic NHLRC1 variant in a consanguineous Pakistani family affected with severe and rapidly progressive Lafora diseaseZain Aslam, Bibi Zubaida, Ranjha Khan, et al.Journal of Genetics|December 18, 2018
Identification of a novel GLB1 mutation in a consanguineous Pakistani family affected by rare infantile GM1 gangliosidosisBibi Zubaida, Muhammad Almas Hashmi, Huma Arshad Cheema, et al.Journal of the College of Physicians and Surgeons--Pakistan : JCPSP|June 10, 2020
ATP7B Mutation Analysis: Wilson Disease, A Difficult to Diagnose CaseMuhammad Almas Hashmi, Bibi Zubaida, Rai Muhammad Asghar, et al.Human Heredity|October 19, 2020
Novel IDS Variants Identified in Three Unrelated Pakistani Patients Affected with Mucopolysaccharidosis Type II (Hunter Syndrome)Bibi Zubaida, Hajira Batool, Huma Arshad Cheema, et al.Genetic Testing and Molecular Biomarkers|September 21, 2018
Genetic Testing of a Large Consanguineous Pakistani Family Affected with Mucolipidosis III Gamma Through Next-Generation SequencingMuhammad Aman Khan, Aneela Hussain, Gulab Sher, et al.Journal of Pediatric Endocrinology & Metabolism : JPEM|April 3, 2020
Identification of two novel variants in GNPTAB underlying mucolipidosis II in a Pakistani familyMuhammad Aman Khan, Bibi Zubaida, Noreen Karim, et al.Annals of Human Genetics|September 3, 2013
UGT1A1 gene mutations in Pakistani children suffering from inherited nonhemolytic unconjugated hyperbilirubinemiasSuliman Khan, Muhammad Irfan, Gulab Sher, et al.Pageof 1