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Klinische Padiatrie|December 18, 2020
Greig Cephalopolysyndactyly Syndrome: Phenotypic Variability Associated with Variants in Two Different Domains of GLI3Hammal Khan, , Sohail Ahmed, et al.
Congenital Anomalies|August 11, 2023
A variant in the LDL receptor-related protein encoding gene LRP4 underlying polydactyly and phalangeal synostosis in a family of Pakistani originHammal Khan, Kifayat Ullah, Abid Jan, et al.
The Journal of Gene Medicine|March 31, 2026
Further Evidence for LRRC7 Gene Involvement in Neurodevelopmental Disorder: A Novel VariantShazia Khan, Muhammad Bilal, Hammal Khan, et al.
International Journal of Developmental Neuroscience : the Official Journal of the International Society for Developmental Neuroscience|May 19, 2026
Homozygous Variant in NADSYN1 Causes Multiple Congenital Vertebral Malformation, With Neurodevelopmental DisorderZaheer Ahmed, Summan Thahiem, Allah Bakhsh, et al.
Clinical and Experimental Reproductive Medicine|June 17, 2026
A novel loss-of-function variant in DNHD1 linked to human asthenozoospermiaShoaib Nawaz, Sidrah Shaheen, Abdul Nasir, 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.
European Journal of Medical Genetics|September 6, 2022
A novel homozygous variant in the GLI1 underlies postaxial polydactyly in a large consanguineous family with intra familial variable phenotypesAbu Bakar, Asmat Ullah, Nousheen Bibi, et al.
Annals of Human Genetics|August 30, 2022
A splice site variant in TCTN3 underlies an atypical form of orofaciodigital syndrome IVShabir Hussain, Shoaib Nawaz, Hammal Khan, et al.
Bone|March 5, 2026
HOXD12 a candidate gene for a novel form of synpolydactylyHammal Khan, Muhammad Bilal, Thashi Bharadwaj, et al.
Molecular Syndromology|August 9, 2024
Delineating the Disease Boundaries: Homozygous CDC14A Variants Underlying Nonsyndromic Hearing Loss and Hearing Impairment Infertile Male SyndromeZamrud Zehri, Hammal Khan, Sohail Ahmed, et al.
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