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Biallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorder
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ZMYND11 variants are a novel cause of centrotemporal and generalised epilepsies with neurodevelopmental disorder
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Two cases of DCDC2‐related neonatal sclerosing cholangitis with developmental delay and literature review
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- Journal Article
- A1
- open access
IQSEC2 disorder : a new disease entity or a Rett spectrum continuum?
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Expanding the molecular spectrum and the neurological phenotype related to CAMTA1 variants
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Phenotypic spectrum of the RBM10-mediated intellectual disability and congenital malformation syndrome beyond classic TARP syndrome features
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Severe congenital cutis laxa : Identification of novel homozygous LOX gene variants in two families
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Missing heritability in Bloom syndrome : first report of a deep intronic variant leading to pseudo‐exon activation in the BLM gene
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Otological manifestations in branchiootorenal spectrum disorder : a systematic review and meta-analysis
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Cutis laxa : a comprehensive overview of clinical characteristics and pathophysiology