Associated Papers
A systematic review of hereditary neurological disorders diagnosed by whole exome sequencing in Pakistani population: updates from 2014 to November 2024.
Ahmad R et al.
Neurogenetics, 2025
Identification of Pathogenic Mutations in Primary Microcephaly- (MCPH-) Related Three Genes CENPJ, CASK, and MCPH1 in Consanguineous Pakistani Families.
Khan NM et al.
Biomed Research International, 2022
Case Report: Identification of a novel CASK missense variant in a Chinese family with MICPCH.
Zhang R et al.
Frontiers in Genetics, 2022
Exome sequencing in patients with microphthalmia, anophthalmia, and coloboma (MAC) from a consanguineous population.
Islam F et al.
Clinical Genetics, 2020
Select a paper to view details