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496 results for your search :
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De novo mutation in DOP1A, expanding the phenotypic spectrum
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Delineating the clinical and molecular spectrum of METTL5 recessive disorder
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Clinical and genetic delineation of autosomal dominant and recessive forms of ACTL6B-related disorders
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Phenotype of individuals with bi-allelic variants in FRRS1L
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International Symposium on rare neurodevelopmental diseases
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Mild forms of tubulinopathies
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XRCC4-related Microcephalic Dwarfism
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ERN-ITHACA Webinar #6 “Innovation in Newborn Screening across Europe”
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Expanding the phenotypic and genotypic spectrum of neurodevelopmental disorders caused by mono- and biallelic KDM5A pathogenic variants
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Delineating the phenotype associated with 5q31 duplications involving PURA