Associated Papers
Germline predisposition in multiple myeloma.
Martins Rodrigues F et al.
Iscience, 2025
39845416 (PubMed )
Supplement: mmc3.xlsx › ST2D.Vars_in_all_genes_MMRF
Analysis of clinical features and genetic variants in Chinese children with pyridoxine-dependent epilepsy: a case series study.
Yu X et al.
Frontiers in Neurology, 2025
40979201 (PubMed )
Supplement: Table_1.xlsx › HGMD______
Biochemical, structural, and computational analyses of two new clinically identified missense mutations of ALDH7A1.
Korasick DA et al.
Chemico-biological Interactions, 2024
Genomic analysis of multiplex consanguineous families reveals causes of neurodevelopmental disorders with epilepsy.
Shafique A et al.
Gene, 2023
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