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Generation and characterization of induced pluripotent stem cells from a Parkinson’s disease patient carrying the digenic LRRK2 p.G2019S and GBA1 p.N409S mutations by Christiane Oleksy, François Massart, Stefano Goldwurm, Alessia Arado, Giuseppe Arena, Ibrahim Boussaad, Rejko Krüger
Published 2023-10-01
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Generation of induced pluripotent stem cell lines from a patient with Sotos syndrome carrying 5q35 microdeletion by Giuseppina Conteduca, Chiara Baldo, Alessia Arado, Monica Traverso, Barbara Testa, Michela Malacarne, Domenico Coviello, Federico Zara, Simona Baldassari
Published 2023-02-01
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<i>NSD1</i> Mutations in Sotos Syndrome Induce Differential Expression of Long Noncoding RNAs, miR646 and Genes Controlling the G2/M Checkpoint by Giuseppina Conteduca, Davide Cangelosi, Simona Coco, Michela Malacarne, Chiara Baldo, Alessia Arado, Rute Pinto, Barbara Testa, Domenico A. Coviello
Published 2022-07-01
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Generation of IGGi003-A induced pluripotent stem cell line from a patient with Sotos Syndrome carrying c.1633delA NSD1 variant in exon 5 by Giuseppina Conteduca, Chiara Baldo, Alessia Arado, Joana Soraia Martinheira da Silva, Barbara Testa, Simona Baldassari, Federico Zara, Gilberto Filaci, Domenico Coviello, Michela Malacarne
Published 2024-04-01
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Molecular Analysis and Reclassification of NSD1 Gene Variants in a Cohort of Patients with Clinical Suspicion of Sotos Syndrome by Barbara Testa, Giuseppina Conteduca, Marina Grasso, Massimiliano Cecconi, Francesca Lantieri, Chiara Baldo, Alessia Arado, Laura Andraghetti, Michela Malacarne, Donatella Milani, Domenico Coviello, Sotos Collaborative Group
Published 2023-01-01
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