Publications by authors named "R Selvatici"

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Landscape Analysis of , , and Pathogenic Variants in a Large Italian Cohort Presenting with Collagen VI-Related Myopathies: A Nationwide Report.
Fernanda Fortunato, Laura Fiocco, Alice Margutti, Marcella Neri, Adele D'Amico, Rita Selvatici

Biomolecules· October 2025

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TREAT: systematic and inclusive selection process of genes for genomic newborn screening as part of the Screen4Care project.
Christina Saier, Stefaan Sansen, Joanne Berghout, Kathrin Freyler, Moshe Einhorn, Rita Selvatici

Orphanet J Rare Dis· May 2025

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mRNA Profile in Brain Tissues from a Rett Syndrome Patient and Three Human Controls: Mutated Allele Preferential Transcription and In Situ RNA Mapping.
Martina Mietto, Silvia Montanari, Maria Sofia Falzarano, Elisa Manzati, Paola Rimessi, Rita Selvatici

Biomolecules· May 2025

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Unraveling undiagnosed rare disease cases by HiFi long-read genome sequencing.
Wouter Steyaert, Lydia Sagath, German Demidov, Vicente A Yépez, Anna Esteve-Codina, Rita Selvatici

Genome Res· April 2025

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Generation of a human induced pluripotent stem cell line (UNIFEi001-A) from a patient with Spinocerebellar ataxia type 1 (SCA1).
Mariangela Pappadà, Sara Melija, Martina Facchini, Mara Martino, Sofia Minarini, Rita Selvatici

Stem Cell Res· March 2025

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