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
Expanding the phenotype of MED 17 mutations: Description of two new cases and review of the literature.
Agostini A et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics, 2018
An expansion of phenotype: novel homozygous variant in the MED17 identified in patients with progressive microcephaly and global developmental delay.
Rafiullah R et al.
Journal of Neurogenetics, 0
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