Search results
502 results for your search :
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Phenotype-genotype study of TAF2
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KLHL11 pathogenic variant in patients with lichen planus, abnormalities of the nails and tumour proneness
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Genotype-phenotype correlation of the CHD8-related developmental disorder
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Phenothype-Genotype relationships in 3q29-microduplication syndrome
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Search for patients with patients with recessive variants in SNX13 gene
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Molecular and phenotypic delineation of the MEF2C-related syndrome
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Search for patients with de novo variants in DCAF15
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Neurodevelopmental disease and brain abnormalities due to YWHAE loss-of-function variants
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Search for patients with severe neonatal presentation due to mutations of the ATL1 gene
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Osteopathia striata with cranial sclerosis: a further insight