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
Combining a prioritization strategy and functional studies nominates 5'UTR variants underlying inherited retinal disease.
Dueñas Rey A et al.
Genome Medicine, 2024
38184646 (PubMed )
Supplement: 13073_2023_1277_MOESM1_ESM.xlsx › Table_S11
Immune dysregulation, polyendocrinopathy, enteropathy, x-linked syndrome: a paradigm of immunodeficiency with autoimmunity.
Barzaghi F et al.
Frontiers in Immunology, 2012
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