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496 results for your search :
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Clinical characteristics of VWA1-related disorders
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DIAPH1-mediated neurodevelopmental disorder with microcephaly, cortical blindness and seizures
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NKX2-1-related disorders international registry
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PPP1R12A phenotype precision
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Epigenomic and phenotypic characterization of DEGCAGS syndrome
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ZNF462-associated phenotype
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Delineating the UGP2 related epileptic encephalopathy
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Delineating the phenotype of the BICRA related disorder
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Delineating the clinical phenotype of the SETD1B disorder
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Delineating AMFR related hereditary spastic paraplegia: a way to therapy?