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502 results for your search :
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ERN-ITHACA Webinar #3 The Solve-RD Program
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Clinical and functional characterization of GRIA-related disorders: translating genetic diagnostics into personalized treatment
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Biallelic variants in BUD23 (WBSCR22) and TRMT112
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SMARCC2-related developmental delay, genotype-phenotype correlations
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Biallelic mutations of ERLIN1
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Expanding the phenotypic and genotypic spectrum of HIDEA syndrome caused by biallelic P4HTM pathogenic variants
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SPOP-related Neurodevelopmental Disorders
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Geleophysic and acromicric dysplasias: study of the natural history
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Consortium for treating Kosaki syndrome
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Long-term cardiological manifestations in patients with mutations in the SKI gene