학술논문
'학술논문'
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1~10
Academic Journal
Natera-de Benito, Daniel; Pugliese, Alessia; Polavarapu, Kiran; Guergueltcheva, Velina; Tournev, Ivailo; Todorova, Albena; Afonso Ribeiro, Joana; Fernández-Mayoralas, Daniel M.; Ortez, Carlos; Martorell, Loreto; Estévez-Arias, Berta; Matalonga, Leslie; Laurie, Steven; Jou, Cristina; Lau, Jarred; Thompson, Rachel; Shen, Xinming; Engel, Andrew G.; Nascimento, Andres; Lochmüller, Hanns; Selcen, Duygu
In Pediatric Neurology August 2024 157:5-13
Academic Journal
Nascimento, Andres; Bruels, Christine C.; Donkervoort, Sandra; Foley, A. Reghan; Codina, Anna; Milisenda, Jose C.; Estrella, Elicia A.; Li, Chengcheng; Pijuan, Jordi; Draper, Isabelle; Hu, Ying; Stafki, Seth A.; Pais, Lynn S.; Ganesh, Vijay S.; O’Donnell-Luria, Anne; Syeda, Safoora B.; Carrera-García, Laura; Expósito-Escudero, Jessica; Yubero, Delia; Martorell, Loreto; Pinal-Fernandez, Iago; Lidov, Hart G. W.; Mammen, Andrew L.; Grau-Junyent, Josep M.; Ortez, Carlos; Palau, Francesc; Ghosh, Partha S.; Darras, Basil T.; Jou, Cristina; Kunkel, Louis M.; Hoenicka, Janet; Bönnemann, Carsten G.; Kang, Peter B.; Natera-de Benito, Daniel
Acta Neuropathologica: Pathology and Mechanisms of Neurological Disease. 145(4):479-496
Academic Journal
Goñi Ros, Nuria; Sienes Bailo, Paula; González Tarancón, Ricardo; Martorell Sampol, Loreto; Izquierdo Álvarez, Silvia
Advances in Laboratory Medicine / Avances en Medicina de Laboratorio. 4(2):190-194
Report
Goñi Ros, Nuria; Sienes Bailo, Paula; González Tarancón, Ricardo; Martorell Sampol, Loreto; Izquierdo Álvarez, Silvia
Advances in Laboratory Medicine / Avances en Medicina de Laboratorio. 4(2):185-189
Wissinger, Bernd; Baumann, Britta; Buena-Atienza, Elena; Ravesh, Zeinab; Cideciyan, Artur V.; Stingl, Katarina; Audo, Isabelle; Meunier, Isabelle; Bocquet, Beatrice; Traboulsi, Elias I.; Hardcastle, Alison J.; Gardner, Jessica C.; Michaelides, Michel; Branham, Kari E.; Rosenberg, Thomas; Andreasson, Sten; Dollfus, Hélène; Birch, David; Vincent, Andrea L.; Martorell, Loreto; Mora, Jaume Català; Kellner, Ulrich; Ruther, Klaus; Lorenz, Birgit; Preising, Markus N.; Manfredini, Emanuela; Zarate, Yuri A.; Vijzelaar, Raymon; Zrenner, Eberhart; Jacobson, Samuel G.; Kohl, Susanne
Proceedings of the National Academy of Sciences of the United States of America. 119(27)
Solaki, Maria; Baumann, Britta; Reuter, Peggy; Andreasson, Sten; Audo, Isabelle; Ayuso, Carmen; Balousha, Ghassan; Benedicenti, Francesco; Birch, David; Bitoun, Pierre; Blain, Delphine; Bocquet, Beatrice; Branham, Kari; Català-Mora, Jaume; De Baere, Elfride; Dollfus, Helene; Falana, Mohammed; Giorda, Roberto; Golovleva, Irina; Gottlob, Irene; Heckenlively, John R.; Jacobson, Samuel G.; Jones, Kaylie; Jägle, Herbert; Janecke, Andreas R.; Kellner, Ulrich; Liskova, Petra; Lorenz, Birgit; Martorell-Sampol, Loreto; Messias, André; Meunier, Isabelle; Belga Ottoni Porto, Fernanda; Papageorgiou, Eleni; Plomp, Astrid S.; de Ravel, Thomy J. L.; Reiff, Charlotte M.; Renner, Agnes B.; Rosenberg, Thomas; Rudolph, Günther; Salati, Roberto; Sener, E. Cumhur; Sieving, Paul A.; Stanzial, Franco; Traboulsi, Elias I.; Tsang, Stephen H.; Varsanyi, Balázs; Weleber, Richard G.; Zobor, Ditta; Stingl, Katarina; Wissinger, Bernd; Kohl, Susanne
Human Mutation. 43(7):832-858
Academic Journal
Roldán, Mònica; Nolasco, Gregorio Alexander; Armengol, Lluís; Frías, Marcos; Morell, Marta; García-Aragonés, Manel; Epifani, Florencia; Muchart, Jordi; Ramírez-Almaraz, María Luisa; Martorell, Loreto; Hernando-Davalillo, Cristina; Urreizti, Roser; Serrano, Mercedes
International Journal of Molecular Sciences. September 2023, Vol. 24 Issue 18
Academic Journal
Nou-Fontanet, Laia; Marti-Sanchez, Laura; Martorell, Loreto; Casas, Jesus; Ortigoza-Escobar, Juan Dario
Academic Journal
Vega-Hanna Lourdes; Sanz-Cuesta Mario; Casas-Alba Didac; Bolasell Mercè; Martorell Loreto; Pías Leticia; Feller Ana Lucia; Antonio Federico Martínez-Monseny; Serrano Mercedes
Frontiers in Pediatrics, Vol 11 (2023)
Academic Journal
López-Ramos, Maria Goretti; Vinent, Joan; Aarnoutse, Rob; Colbers, Angela; Velasco-Arnaiz, Eneritz; Martorell, Loreto; Falcón-Neyra, Lola; Neth, Olaf; Prieto, Luis; Guillén, Sara; Baquero-Artigao, Fernando; Méndez-Echevarría, Ana; Gómez-Pastrana, David; Jiménez, Ana Belén; Lahoz, Rebeca; Ramos-Amador, José Tomás; Soriano-Arandes, Antoni; Santiago, Begoña; Farré, Rosa; Fortuny, Clàudia; Soy, Dolors; Noguera-Julian, Antoni
Antibiotics. January 2023, Vol. 12 Issue 2
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