Showing 1 - 8 results of 8 for search 'Federico Zara', query time: 0.01s
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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 2025-03-01Get full text
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Novel De Novo RALA Missense Variants Expand the Genotype Spectrum of Hiatt‐Neu‐Cooper Neurodevelopmental Syndrome by Alice Dainelli, Mohammad Sadegh Shams Nosrati, Ferruccio Romano, Fabiana Vercellino, Maria Margherita Mancardi, Annalaura Torella, Vincenzo Nigro, Valeria Capra, Federico Zara, Marcello Scala
Published 2025-02-01Get full text
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CACNA1A loss-of-function affects neurogenesis in human iPSC-derived neural models by Ilaria Musante, Davide Cangelosi, Lorenzo Muzzi, Fanny Jaudon, Marco Di Duca, Sara Guerrisi, Francesca Antonini, Yeraldin Chiquinquira Castillo De Spelorzi, Lorenzo A. Cingolani, Federico Zara, Paolo Scudieri
Published 2025-06-01Get full text
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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 2025-02-01Get full text
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Hyccin, the molecule mutated in the leukodystrophy hypomyelination and congenital cataract (HCC), is a neuronal protein. by Elisabetta Gazzerro, Simona Baldassari, Caterina Giacomini, Veronica Musante, Floriana Fruscione, Veronica La Padula, Roberta Biancheri, Sonia Scarfì, Valeria Prada, Federica Sotgia, Ian D Duncan, Federico Zara, Hauke B Werner, Michael P Lisanti, Lucilla Nobbio, Anna Corradi, Carlo Minetti
Published 2012-01-01Get full text
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SUDEP risk is influenced by longevity genomics: a polygenic risk score studyResearch in context by Helena Martins, James D. Mills, Susanna Pagni, Medine I. Gulcebi, Angeliki Vakrinou, Patrick B. Moloney, Lisa M. Clayton, Ravishankara Bellampalli, Hannah Stamberger, Sarah Weckhuysen, Pasquale Striano, Federico Zara, Richard D. Bagnall, Rebekah V. Harris, Kate M. Lawrence, Lynette G. Sadleir, Douglas E. Crompton, Daniel Friedman, Juliana Laze, Ling Li, Samuel F. Berkovic, Christopher Semsarian, Ingrid E. Scheffer, Orrin Devinsky, Karoline Kuchenbaecker, Simona Balestrini, Sanjay M. Sisodiya
Published 2025-08-01Get full text
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Evaluation of Presumably Disease Causing SCN1A Variants in a Cohort of Common Epilepsy Syndromes. by Dennis Lal, Eva M Reinthaler, Borislav Dejanovic, Patrick May, Holger Thiele, Anna-Elina Lehesjoki, Günter Schwarz, Erik Riesch, M Arfan Ikram, Cornelia M van Duijn, Andre G Uitterlinden, Albert Hofman, Hannelore Steinböck, Ursula Gruber-Sedlmayr, Birgit Neophytou, Federico Zara, Andreas Hahn, Genetic Commission of the Italian League against Epilepsy, EuroEPINOMICS CoGIE Consortium, Padhraig Gormley, Felicitas Becker, Yvonne G Weber, Maria Roberta Cilio, Wolfram S Kunz, Roland Krause, Fritz Zimprich, Johannes R Lemke, Peter Nürnberg, Thomas Sander, Holger Lerche, Bernd A Neubauer
Published 2016-01-01Get full text
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