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| Issue Date | Title | Author(s) |
|---|---|---|
| 19-Feb-2022 | Diagnostic 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-2019 | Case report of a child bearing a novel deleterious splicing variant in PIGT | Manson, Samantha; Castilla Vallmanya, Laura; Con, James; Andrews, P. Ian; Balcells Comas, Susana; Grinberg Vaisman, Daniel Raúl; Kirk, E.P.; Urreizti, Roser |
| 10-Jan-2014 | El autismo en el primer año | Paula Pérez, Isabel, 1970-; Artigas, Josep, 1948- |
| 17-Feb-2004 | Estudi genètic de la Síndrome de Williams-Beuren i de les patologies associades al gen de l'elastina | Rodríguez-Revenga Bodi, Laia |
| 19-Jan-2007 | Caracterització 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 pacients | Pérez Arroyo, Annalisa |
| 3-Apr-2019 | De novo Mutations From Whole Exome Sequencing in Neurodevelopmental and Psychiatric Disorders: From Discovery to Application. | Wang, Weidi; Corominas Castiñeira, Roser; Lin, Guan Ning |
| 23-Dec-2022 | Identification of homologous GluN subunits variants accelerates GRIN variants stratification | Santos Gómez, Ana; García Recio, Adrián; Miguez Cabello, Federico; Soto del Cerro, David; Altafaj, Xavier; Olivella, Mireia |
| 1-Mar-2024 | Inheritance of c.628-6G>A GNB5 hypomorphic allele uncovers another challenge in the pathogenic prediction of genomic variants | Pijuan, Jordi; Vilanova Adell, Alba; Casas Alba, Dídac; Campistol Plana, Jaume; Hoenicka Blanco, Janet; Palau Martínez, Francesc |
| 15-May-2004 | Snail blocks the cell cycle and confers resistance to cell death | Vega, Sonia; Morales, Aixa V.; Ocaña, Oscar H.; Valdés, Francisco; Fabregat Romero, Isabel; Nieto, M. Angela |
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