Search Results - Francesca Faravelli

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  1. 1

    LMX1B haploinsufficiency due to variants in the 5’UTR as a cause of Nail-Patella syndrome by Serena Cappato, Maria Teresa Divizia, Ludovica Menta, Giulia Rosti, Aldamaria Puliti, Joana Soraia Martinheira Da Silva, Giuseppe Santamaria, Marco Di Duca, Patrizia Ronchetto, Francesca Faravelli, Federico Zara, Renata Bocciardi

    Published in npj Genomic Medicine (2025-02-01)
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  2. 2

    Case Report: Beyond type 1 diabetes: a case of delayed MODY1 diagnosis and successful transition to sulfonylurea therapy by Chiara Gulisano, Concetta Aloi, Alessandro Salina, Camilla Marazzi, Giordano Spacco, Serena Cappato, Renata Bocciardi, Renata Bocciardi, Dario Iafusco, Giacomo Tantari, Giuseppe d'Annunzio, Nicola Minuto, Mohamad Maghnie, Marta Bassi, Francesca Faravelli

    Published in Frontiers in Medicine (2025-05-01)
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  3. 3

    Functional Characterization of a Novel Intronic Variant in PIEZO2 in a Recessive Form of Distal Arthrogryposis With Impaired Proprioception and Touch (DAIPT) by Michela Bellardita, Ferruccio Romano, Ludovica Menta, Joana Soraia Martinheira Da Silva, Marzia Ognibene, Simona Baldassari, Marco Di Duca, Chiara Panicucci, Serena Baratto, Noemi Brolatti, Marina Pedemonte, Chiara Fiorillo, Claudio Bruno, Marcello Scala, Federico Zara, Francesca Faravelli, Francesca Madia, Serena Cappato, Renata Bocciardi, Valeria Capra

    Published in Molecular Genetics & Genomic Medicine (2025-08-01)
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  4. 4

    The English National Lynch Syndrome transformation project: an NHS Genomic Medicine Service Alliance (GMSA) programme by Frances Elmslie, Anna Kim, Kevin J Monahan, Francesca Faravelli, Fiona Lalloo, David N Church, Jackie Cook, Tracie Miles, Neil Ryan, Steven A Hardy, Sally Lane, Alaa Elghobashy, Laura Monje-Garcia, Adam C Shaw, Simone Gelinas, Adele Tyson, Ruth Armstrong, Frank D McDermott, Valerie Ya Wen Wang

    Published in BMJ Oncology (2023-12-01)
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  5. 5

    Arteriovenous cerebral high-flow shunts: genetic analysis of patients from a pediatric tertiary care center by Ferruccio Romano, Patrizia De Marco, Giulia Amico, Marisa Mallamaci, Marco Pavanello, Gianluca Piatelli, Marcello Scala, Federico Zara, Federico Zara, Federico Zara, Federico Zara, Federico Zara, Francesca Faravelli, Mariasavina Severino, Mariasavina Severino, Domenico Tortora, Domenico Tortora, Francesco Pasetti, Lucio Castellan, Silvia Buratti, Silvia Buratti, Silvia Buratti, Valeria Capra

    Published in Frontiers in Genetics (2025-03-01)
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