RDCRN

Rare Research Report

Esplora sintesi approfondite degli ultimi studi scientifici della Rete di Ricerca Clinica sulle Malattie Rare. Sintonizzati mensilmente per aggiornamenti su disturbi rari e ricerche.

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DC: Exploring Genetic Diversity and Phenotypes in Dystonia

2 mins • Jul 23, 2025

Episodi recenti

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

2 mins

Jul 23, 2025

FCDGC: Examining Metabolomic Changes in a Patient with PGM1-Congenital Disorder of Glycosylation and Leigh Syndrome

2 mins

Jul 23, 2025

GLIA-CTN: Characterizing Diagnostic Delays in Metachromatic Leukodystrophy

2 mins

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