Uncovering the genetic architecture of inherited retinal disease in a consanguineous Iranian cohort
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Npj genomic medicine - ISSN 2056-7944-10:1 (2025) p. 1-9
TBP repeat expansion analysis in patients carrying heterozygous STUB1 variants
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Movement disorders: video, videotape supplements - ISSN 0885-3185- (2025) p.
Homozygous SMAD6 variants in two unrelated patients with craniosynostosis and radioulnar synostosis
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Journal of medical genetics - ISSN 0022-2593-61:4 (2024) p. 363-368
From diagnosis to treatment in genetic epilepsies : implementation of precision medicine in real-world clinical practice
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European journal of paediatric neurology - ISSN 1090-3798-48 (2024) p. 46-60
A homozygous loss of function variant in POPDC3 : from invalidating exercise intolerance to a limb-girdle muscular dystrophy phenotype
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Neuromuscular disorders - ISSN 0960-8966-33:5 (2023) p. 432-439