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496 results for your search :
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Clinical characterization of gnathodiaphyseal dysplasia related to heterozygous mutation of ANO5 gene
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ERN ITHACA Webinar #7 ” Speaking or not speaking, epilepsy or not epilepsy: is Rett syndrome a real monogenic disorder?”
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Webinar #6 Inovation in Newborn Screening
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Expanding the phenotype of patients with bi-allelic variants in SCAPER
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Clinical, radiological, and molecular features of TOE1-related disorders
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Microcephalic dwarfisms: growth parameters, brain imaging and cognitive profile
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Delineating the clinical and molecular spectrum of NSMCE2 recessive disorder
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Delineating the phenotype associated with CA8-related disorders
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Delineation of the clinical and genetic features of the ultra-rare ZBTB11-related disorders