Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Francesca C. Radio"'
Autor:
Vincenzo Antona, Federica Scalia, Elisa Giorgio, Francesca C. Radio, Alfredo Brusco, Massimiliano Oliveri, Giovanni Corsello, Fabrizio Lo Celso, Maria Vadalà, Everly Conway de Macario, Alberto J. L. Macario, Francesco Cappello, Mario Giuffrè
Publikováno v:
International Journal of Molecular Sciences, Vol 21, Iss 20, p 7631 (2020)
Diseases associated with acquired or genetic defects in members of the chaperoning system (CS) are increasingly found and have been collectively termed chaperonopathies. Illustrative instances of genetic chaperonopathies involve the genes for chapero
Externí odkaz:
https://doaj.org/article/c4b4dd23d6e04a4dac1b4807aeb9ce53
Autor:
Elke de Boer, Burcu Yaldiz, Anne-Sophie Denommé-Pichon, Leslie Matalonga, Steve Laurie, Wouter Steyaert, Rick de Reuver, Christian Gilissen, Michael Kwint, Rolph Pfundt, Alain Verloes, Michèl A.A.P. Willemsen, Bert B.A. de Vries, A. Vitobello, Tjitske Kleefstra, Lisenka E.L.M. Vissers, Enzo Cohen, Isabel Cuesta, Daniel Danis, Fei Gao, Rita Horvath, Mridul Johari, Lennart Johanson, Shuang Li, Heba Morsy, Isabelle Nelson, Ida Paramonov, Iris B.A.W. te Paske, Peter Robinson, Marco Savarese, Ana Töpf, Aurélien Trimouille, Joeri K. van der Velde, Jana Vandrovcova, Antonio Vitobello, Birte Zurek, Kristin M. Abbot, Siddharth Banka, Elisa Benetti, Giorgio Casari, Andrea Ciolfi, Jill Clayton-Smith, Bruno Dallapiccola, Kornelia Ellwanger, Laurence Faivre, Holm Graessner, Tobias B. Haack, Anna Hammarsjö, Marketa Havlovicova, Alexander Hoischen, Anne Hugon, Adam Jackson, Mieke Kerstjens, Anna Lindstrand, Estrella López Martín, Milan Macek, Isabelle Maystadt, Manuela Morleo, Vicenzo Nigro, Ann Nordgren, Maria Pettersson, Michele Pinelli, Simone Pizzi, Manuel Posada, Francesca C. Radio, Alessandra Renieri, Caroline Rooryck, Lukas Ryba, Gijs W.E. Santen, Martin Schwarz, Marco Tartaglia, Christel Thauvin, Annalaura Torella, Lisenka Vissers, Pavel Votypka, Klea Vyshka, Kristina Zguro
Publikováno v:
European Journal of Medical Genetics, 65(1). ELSEVIER
European Journal of Medical Genetics, 65
European Journal of Medical Genetics, 65, 1
European Journal of Medical Genetics, 65
European Journal of Medical Genetics, 65, 1
Almost half of all individuals affected by intellectual disability (ID) remain undiagnosed. In the Solve-RD project, exome sequencing (ES) datasets from unresolved individuals with (syndromic) ID (n = 1,472 probands) are systematically reanalyzed, st
Autor:
Diana Carli, Elisa Giorgio, Francesca Pantaleoni, Alessandro Bruselles, Sabina Barresi, Evelise Riberi, Francesco Licciardi, Andrea Gazzin, Giuseppina Baldassarre, Simone Pizzi, Marcello Niceta, Francesca C. Radio, Cristina Molinatto, Davide Montin, Pier L. Calvo, Andrea Ciolfi, Nicole Fleischer, Giovanni B. Ferrero, Alfredo Brusco, Marco Tartaglia
Publikováno v:
Human Mutation. 40