Search results
502 results for your search :
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A novel X-linked syndromic neurodevelopmental disorders associated with WDR44 pathogenic variants
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TRA2B-associated neurodevelopmental delay
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De novo missense variants in EIF3I cause a novel neurodevelopmental disorder with midline brain defects and skeletal abnormalities
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Search for patients harbouring a de novo heterozygous variant in SP9 gene
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FOREIGN (FOSL2-related signs)
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POGZ variants in neurodevelopmental disorders
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BCL11B related disorder : clinical phenotype, neuropsychological profile, brain MRI characteristics and epigenetic signature
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Search for patients with biallelic variants in genes implicated in the ufmylation pathway
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MAP3K7-associated phenotype
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KMT2B-related disorders without dystonia