Showing 1 - 4 results of 4 for search 'Neus Baena', query time: 0.02s
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Genetic testing for familial hyperparathyroidism: clinical-genetic profile in a Mediterranean cohort by Isabel Mazarico-Altisent, Ismael Capel, Neus Baena, Maria Rosa Bella-Cueto, Santi Barcons, Xavier Guirao, Rocío Pareja, Andreea Muntean, Valeria Arsentales, Assumpta Caixàs, Mercedes Rigla
Published 2023-09-01
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High Performance of a Dominant/X-Linked Gene Panel in Patients with Neurodevelopmental Disorders by Nino Spataro, Juan Pablo Trujillo-Quintero, Carmen Manso, Elisabeth Gabau, Nuria Capdevila, Victor Martinez-Glez, Antoni Berenguer-Llergo, Sara Reyes, Anna Brunet, Neus Baena, Miriam Guitart, Anna Ruiz
Published 2023-03-01
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Case report: Identification of a novel variant p.Gly215Arg in the CHN1 gene causing Moebius syndrome by Carmen Manso-Bazús, Nino Spataro, Elisabeth Gabau, Viviana P. Beltrán-Salazar, Juan Pablo Trujillo-Quintero, Nuria Capdevila, Anna Brunet-Vega, Neus Baena, A Arockia Jeyaprakash, A Arockia Jeyaprakash, Victor Martinez-Glez, Anna Ruiz
Published 2024-01-01
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Genetic and Clinical Heterogeneity in Thirteen New Cases with Aceruloplasminemia. Atypical Anemia as a Clue for an Early Diagnosis by Marc Vila Cuenca, Giacomo Marchi, Anna Barqué, Clara Esteban-Jurado, Alessandro Marchetto, Alejandro Giorgetti, Viorica Chelban, Henry Houlden, Nicholas W Wood, Chiara Piubelli, Marina Dorigatti Borges, Dulcinéia Martins de Albuquerque, Kleber Yotsumoto Fertrin, Ester Jové-Buxeda, Jordi Sanchez-Delgado, Neus Baena-Díez, Birute Burnyte, Algirdas Utkus, Fabiana Busti, Gintaras Kaubrys, Eda Suku, Kamil Kowalczyk, Bartosz Karaszewski, John B. Porter, Sally Pollard, Perla Eleftheriou, Patricia Bignell, Domenico Girelli, Mayka Sanchez
Published 2020-03-01
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