Examinant per Autoria "Gabau, Elisabeth"
Resultats per pàgina
Opcions d'ordenació
Ítem Accés Obert Identification of a de novo splicing variant in the Coffin-Siris gene, SMARCE1, in a patient with Angelman-like syndrome(Wiley, 2019) Aguilera, Cinthia; Gabau, Elisabeth; Laurie, Steven, 1973-; Baena, Neus; Derdak, Sophia; Capdevila, Núria; Ramirez, Ariadna; Delgadillo, Veronica; García-Catalan, Maria Jesus; Brun i Gasca, Carme; Guitart, Miriam; Ruiz, Anna
Ítem Accés Obert Integrated analysis of whole-exome sequencing and transcriptome profiling in males with autism spectrum disorders.(BioMed Central, 2015) Codina i Solà, Marta, 1988-; Rodríguez Santiago, Benjamín; Homs Raubert, Aïda, 1983-; Santoyo-Lopez, Javier; Rigau, Maria; Aznar Laín, Gemma; Campo Casanelles, Miguel del, 1966-; Gener, Blanca; Gabau, Elisabeth; Botella, María Pilar; Gutiérrez Arumi, Armand, 1980-; Antiñolo, Guillermo; Pérez Jurado, Luis Alberto; Cuscó Martí, Ivon, 1973-
Ítem Accés Obert Lack of Postprandial Peak in Brain-Derived Neurotrophic Factor in Adults with Prader-Willi Syndrome.(Public Library of Science (PLoS) , 2016) Bueno, Marta; Esteba-Castillo, Susanna; Novell, Ramon; Giménez Palop, Olga; Coronas, Ramon; Gabau, Elisabeth; Corripio, Raquel; Baena, Neus; Viñas-Jornet, Marina; Guitart, Miriam; Torrents-Rodas, David; Deus, Joan; Pujol Martí, Jesús, 1981-; Rigla, Mercedes; Caixàs, Assumpta
Ítem Accés Obert Lack of response to disgusting food in the hypothalamus and related structures in Prader Willi syndrome(Elsevier, 2019) Blanco Hinojo, Laura, 1981-; Pujol Martí, Jesús, 1981-; Esteba-Castillo, Susanna; Martínez-Vilavella, Gerard; Giménez Palop, Olga; Gabau, Elisabeth; Casamitjana, Laia; Deus, Joan; Novell, Ramon; Caixàs, Assumpta
Ítem Accés Obert New genes involved in Angelman syndrome-like: expanding the genetic spectrum(Public Library of Science (PLoS), 2021) Aguilera, Cinthia; Gabau, Elisabeth; Ramirez-Mallafré, Ariadna; Brun i Gasca, Carme; Dominguez-Carral, Jana; Delgadillo, Veronica; Laurie, Steven, 1973-; Derdak, Sophia; Padilla, Natàlia; Cruz, Xavier de la; Capdevila, Núria; Spataro, Nino, 1984-; Baena, Neus; Guitart, Miriam; Ruiz, Anna