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496 results for your search :
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Refining phenotypes in females and males presenting with RNF113A-related X-linked trichothiodystrophy
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CHD3 related syndrome investigation and molecular description
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Clinical and genetic characterization of SLC9A1 and CHP1-related ataxia
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Clinical, genetic and neuroimaging features of biallelic NOTCH3 disorders
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Further delineation of RPL26-associated malformations
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TMEM53-associated phenotype
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MTOR delineation and episignature
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SETD1A delineation and episignature
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Further expansion of phenotypic spectrum of individuals with bi-allelic variants in CCDC82
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