Explore resumos perspicazes dos mais recentes estudos científicos da Rede de Pesquisa Clínica de Doenças Raras. Sintonize-se mensalmente para atualizações sobre distúrbios raros e pesquisas.
DC: Exploring Genetic Diversity and Phenotypes in Dystonia
2 mins • Jul 23, 2025
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Episódios recentes

Jul 23, 2025
DC: Exploring Genetic Diversity and Phenotypes in Dystonia
2 mins

Jul 23, 2025
DSC: Exploring the Relationship Between Genomic Diversity and Neurodevelopmental Versus Cancer Risks in Individuals with PHTS
3 mins

Jul 23, 2025
DSC: Using Genome Sequencing to Identify Additional Molecular Diagnoses in Phelan-McDermid Syndrome
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FCDGC: Examining Metabolomic Changes in a Patient with PGM1-Congenital Disorder of Glycosylation and Leigh Syndrome
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Jul 23, 2025
GLIA-CTN: Characterizing Diagnostic Delays in Metachromatic Leukodystrophy
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