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Beyond gene-disease validity : capturing structured data on inheritance, allelic requirement, disease-relevant variant classes, and disease mechanism for inherited cardiac conditions
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- Journal Article
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The broad phenotypic spectrum of 17 alpha-hydroxylase/17,20-Iyase (CYP17A1) deficiency : a case series
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Animal models of Ehlers–Danlos syndromes : phenotype, pathogenesis, and translational potential
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Hypomorphic zebrafish models mimic the musculoskeletal phenotype of β4GalT7-deficient Ehlers-Danlos syndrome
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- Journal Article
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Functional characterization of novel MFSD8 pathogenic variants anticipates neurological involvement in juvenile isolated maculopathy
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- Journal Article
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The clinical and mutational spectrum of B3GAT3 linkeropathy : two case reports and literature review
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Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders
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Characterization of a novel mutation in PAX9 gene in a family with non-syndromic dental agenesis
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Biallelic mutations in GNB3 cause a unique form of autosomal-recessive congenital stationary night blindness
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The MC4R c.893G > A mutation: a marker for growth and leanness associated with boar taint odour in Belgian pig breeds