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Paradigmatic De Novo <i>GRIN1</i> Variants Recapitulate Pathophysiological Mechanisms Underlying GRIN1-Related Disorder Clinical Spectrum by Ana Santos-Gómez, Federico Miguez-Cabello, Natalia Juliá-Palacios, Deyanira García-Navas, Víctor Soto-Insuga, Juan J. García-Peñas, Patricia Fuentes, Salvador Ibáñez-Micó, Laura Cuesta, Ramón Cancho, Patricia Andreo-Lillo, Gema Gutiérrez-Aguilar, Olga Alonso-Luengo, Ignacio Málaga, Antonio Hedrera-Fernández, Àngels García-Cazorla, David Soto, Mireia Olivella, Xavier Altafaj
Published 2021-11-01
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Impact of COVID19 pandemic on patients with rare diseases in Spain, with a special focus on inherited metabolic diseases by M. Mar Rovira-Remisa, Mónica Moreira, Paula Sol Ventura, Pablo Gonzalez-Alvarez, Núria Mestres, Fredzzia Graterol Torres, Clara Joaquín, Agustí Rodríguez-Palmero Seuma, Maria del Mar Martínez-Colls, Ana Roche, Salvador Ibáñez-Micó, Eduardo López-Laso, María Jesús Méndez-Hernández, Marta Murillo, Laura Monlleó-Neila, Elena Maqueda-Castellote, Mireia del Toro Riera, Ana Felipe-Rucián, Maria Giralt-López, Elisenda Cortès-Saladelafont
Published 2023-06-01
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Availability and use of rapid diagnostic tests for the management of acute childhood infections in Europe: A cross-sectional survey of paediatricians. by Juan Emmanuel Dewez, Lucy Pembrey, Ruud G Nijman, Stefano Del Torso, Zachi Grossman, Adamos Hadjipanayis, Diego Van Esso, Emma Lim, Marieke Emonts, James Burns, Christèle Gras-LeGuen, Daniela Kohlfuerst, Hans Jürgen Dornbusch, Karen Brengel-Pesce, Francois Mallet, Ulrich von Both, Maria Tsolia, Irini Eleftheriou, Dace Zavadska, Ronald de Groot, Michiel van der Flier, Henriëtte Moll, Nienke Hagedoorn, Dorine Borensztajn, Rianne Oostenbrink, Taco Kuijpers, Marko Pokorn, Katarina Vincek, Federico Martinón-Torres, Irene Rivero, Philipp Agyeman, Enitan D Carrol, Stéphane Paulus, Aubrey Cunnington, Jethro Herberg, Michael Levin, Aida Mujkić, Karin Geitmann, Liviana Da Dalt, Arūnas Valiulis, Risto Lapatto, Garyfallia Syridou, Péter Altorjai, Paul Torpiano, Ketil Størdal, Károly Illy, Artur Mazur, Mateja Vintar Spreitzer, Joana Rios, Corinne Wyder, Ivanna Romankevych, Romain Basmaci, Salvador Ibanez-Mico, Shunmay Yeung
Published 2022-01-01
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Developmental outcome of electroencephalographic findings in SYNGAP1 encephalopathy by Juliana Ribeiro-Constante, Alba Tristán-Noguero, Alba Tristán-Noguero, Fernando Francisco Martínez Calvo, Salvador Ibañez-Mico, José Luis Peña Segura, José Miguel Ramos-Fernández, María del Carmen Moyano Chicano, Rafael Camino León, Víctor Soto Insuga, Elena González Alguacil, Carlos Valera Dávila, Alberto Fernández-Jaén, Laura Plans, Ana Camacho, Nuria Visa-Reñé, María del Pilar Martin-Tamayo Blázquez, Fernando Paredes-Carmona, Itxaso Marti-Carrera, Aránzazu Hernández-Fabián, Meritxell Tomas Davi, Merce Casadesus Sanchez, Laura Cuesta Herraiz, Patricia Fuentes Pita, Teresa Bermejo Gonzalez, Mar O'Callaghan, Federico Felipe Iglesias Santa Polonia, María Rosario Cazorla, María Teresa Ferrando Lucas, Antonio González-Meneses, Júlia Sala-Coromina, Alfons Macaya, Amaia Lasa-Aranzasti, Anna Ma Cueto-González, Francisca Valera Párraga, Jaume Campistol Plana, Mercedes Serrano, Xenia Alonso, Diego Del Castillo-Berges, Marc Schwartz-Palleja, Marc Schwartz-Palleja, Marc Schwartz-Palleja, Sofía Illescas, Alia Ramírez Camacho, Oscar Sans Capdevila, Angeles García-Cazorla, Àlex Bayés, Itziar Alonso-Colmenero
Published 2024-03-01
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