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
Maternal mosaicism for a missense variant in the SMS gene that causes Snyder-Robinson syndrome.
Marhabaie M et al.
Cold Spring Harbor Molecular Case Studies, 2021
Whole-exome sequencing identifies a novel mutation in spermine synthase gene (SMS) associated with Snyder-Robinson Syndrome.
Qazi TJ et al.
Bmc Medical Genetics, 2020
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