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Issue DateTitleAuthor(s)
10-Jan-2014El autismo en el primer añoPaula Pérez, Isabel, 1970-; Artigas, Josep, 1948-
19-Jan-2007Caracterització molecular del gen GH1 en poblacions control i patològiques, patrons d'expressió en leucòcits de sang perifèrica i estudi funcional de proteïnes mutants detectades en pacientsPérez Arroyo, Annalisa
17-Feb-2004Estudi genètic de la Síndrome de Williams-Beuren i de les patologies associades al gen de l'elastinaRodríguez-Revenga Bodi, Laia
15-May-2004Snail blocks the cell cycle and confers resistance to cell deathVega, Sonia; Morales, Aixa V.; Ocaña, Oscar H.; Valdés, Francisco; Fabregat Romero, Isabel; Nieto, M. Angela
19-Feb-2022Diagnostic yield of next-generation sequencing in 87 families with neurodevelopmental disorders.Álvarez-Mora, María Isabel; Sánchez, Aurora; Rodríguez-Revenga, Laia; Corominas, Jordi; Rabionet Janssen, Raquel; Puig i Sardà, Susana; Madrigal, Irene
22-Feb-2019Case report of a child bearing a novel deleterious splicing variant in PIGTManson, Samantha; Castilla Vallmanya, Laura; Con, James; Andrews, P. Ian; Balcells Comas, Susana; Grinberg Vaisman, Daniel Raúl; Kirk, E.P.; Urreizti, Roser
23-Dec-2022Identification of homologous GluN subunits variants accelerates GRIN variants stratificationSantos Gómez, Ana; García Recio, Adrián; Miguez Cabello, Federico; Soto del Cerro, David; Altafaj, Xavier; Olivella, Mireia
3-Apr-2019De novo Mutations From Whole Exome Sequencing in Neurodevelopmental and Psychiatric Disorders: From Discovery to Application.Wang, Weidi; Corominas Castiñeira, Roser; Lin, Guan Ning