Search results
502 results for your search :
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Deep phenotyping and natural history of WARS2-related disorder (particularly dystonia-parkinsonism)
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Characterization of NFUFA9-related mitochondrialdisorder
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INTS11-associated neurodevelopmental disorder
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Clinical, molecular and functional characterization of CLCN3-associated neurodevelopmental disorder
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Delineation of phenotypes and genotypes related to DPYSL genes family
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Phenotypic characterization of a WBP11-related pseudo-VATER syndome
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Coffin-Lowry syndrome in female patients: neurodevelopmental and malformative phenotype
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GABPB1 gene in intellectual disability
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Neurodevelopmental phenotypes associated to HSF2 deleterious variation
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Further clinical and genetic characterization of the KDM2B-related disorder