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496 results for your search :
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Osteopathia striata with cranial sclerosis: a further insight
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Rare Disease Diagnosis series – Genetic Origin
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CAMK2A-related neurodevelopmental disorder – description of the clinical and neurological phenotype
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Implication of missense variants in the NSD1 gene in Sotos-like phenotype
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TRIP12-associated neurodevelopmental disorder
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ZBTB47/ZNF651 variants
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Expanding the phenotype related to de novo missense variants in HNRNPH2
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Correlation between intellectual disability and cutaneous skin mosaicism
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Clinical and molecular characterization of a novel MYCN related syndrome – A mirror phenotype and molecular of the Feingold syndrome
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Intellectual Disability and Scientific Research: From Diagnosis to Treatment