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Shortcutting the diagnostic odyssey : the multidisciplinary program for undiagnosed rare diseases in adults (UD-PrOZA)
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Expanding the molecular spectrum and the neurological phenotype related to CAMTA1 variants
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De novo missense variants in RAC3 cause a novel neurodevelopmental syndrome
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Severe congenital neutropenia with neurological impairment due to a homozygous VPS45 p.E238K mutation: a case report suggesting a genotype-phenotype correlation
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Recurrent duplications of 17q12 associated with variable phenotypes