1. Repositorio Salud Andalucía

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PreviewTitleAuthor(s)Issue Date
Comprehensive analysis of RET common and rare variant patientsin a series of Spanish Hirschsprung patients confirms a synergistic effect of both kinds of eventsNuñez-Torres, Rocio; Fernandez, Raquel M; Acosta, Manuel Jesus; Enguix-Riego, Maria del Valle; Marba, Martina; de Agustin, Juan Carlos; Castaño, Luis; Antiñolo, Guillermo; Borrego, Salud13-Oct-2011
Expression of PROKR1 and PROKR2 in Human Enteric Neural Precursor Cells and Identification of Sequence Variants Suggest a Role in HSCRRuiz-Ferrer, Macarena.; Torroglosa, Ana.; Nuñez-Torres, Rocio.; de Agustín, Juan Carlos; Antiñolo, Guillermo; Borrego, Salud12-Aug-2011
Novel MLPA procedure using self-designed probes allows comprehensive analysis for CNVs of the genes involved in Hirschsprung disease.Sánchez-Mejías, Avencia; Núñez-Torres, Rocío; Fernández, Raquel M.; Antiñolo, Guillermo; Borrego, Salud11-May-2010
Mutation screening of multiple genes in Spanish patients with autosomal recessive retinitis pigmentosa by targeted resequencing.González-del Pozo, María E.; Borrego, Salud; Barragán, Isabel; Pieras, Juan I; Santoyo, Javier; Matamala, Nerea; Naranjo, Belén; Dopazo, Joaquín; Antiñolo, Guillermo2-Dec-2011
Comprehensive analysis of NRG1 common and rare variants in Hirschsprung patients.Luzón-Toro, Berta; Torroglosa, Ana; Núñez-Torres, Rocío; Enguix-Riego, María Valle; Fernández, Raquel María; de Agustín, Juan Carlos; Antiñolo, Guillermo; Borrego, Salud4-May-2012
Improving the management of Inherited Retinal Dystrophies by targeted sequencing of a population-specific gene panel.Bravo-Gil, Nereida; Méndez-Vidal, Cristina; Romero-Pérez, Laura; González-Del Pozo, María; Rodríguez-de la Rúa, Enrique; Dopazo, Joaquín; Borrego, Salud; Antiñolo, Guillermo1-Apr-2016
Derivation of HVR1, HVR2 and HVR3 human embryonic stem cell lines from IVF embryos after preimplantation genetic diagnosis (PGD) for monogenic disorder.Hmadcha, Abdelkrim; Aguilera, Yolanda; Lozano-Arana, Maria Dolores; Mellado, Nuria; Sánchez, Javier; Moya, Cristina; Sánchez-Palazón, Luis; Palacios, Jose; Antiñolo, Guillermo; Soria, BernatMay-2016
Identification of New Potential LncRNA Biomarkers in Hirschsprung DiseaseTorroglosa, Ana; Villalba-Benito, Leticia; Fernández, Raquel María; Luzón-Toro, Berta; Moya-Jiménez, María José; Antiñolo, Guillermo; Borrego, Salud2-Aug-2020

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