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Publicaciones en la fuente European Journal of Human Genetics

Tipo Año Título Fuente
Artículo2025A Spanish-Portuguese GWAS of progressive supranuclear palsy reveals a novel risk locus in NFASCEuropean Journal of Human Genetics
Artículo2025The Spanish Polygenic Score reference distribution: a resource for personalized medicineEuropean Journal of Human Genetics
Resumen congreso2024A genome-wide association study for survival from a multi-center European study identified variants associated with the risk of death due to COVID-19European Journal of Human Genetics
Resumen congreso2024Phenotypic and mutational spectrum in dystonia genes: Insights from gene panel screeningEuropean Journal of Human Genetics
Resumen congreso2024Rare CNVs in biologically plausible candidate genes found by WGS in COVID-19 patientsEuropean Journal of Human Genetics
Resumen congreso2022Sediment DNA reveals Neandertal population historyEuropean Journal of Human Genetics
Resumen congreso2019Application of genomics and cognitive technology in precision oncological medicineEuropean Journal of Human Genetics
Resumen congreso2018Mutation analysis of LIPA through NGS in a cohort of 731 patients with nonalcoholic hepatic steatosis and familial hypercholesterolemiaEuropean Journal of Human Genetics
Artículo2008Array-based comparative genomic hybridization of mapped BAC DNA clones to screen for chromosome 14 copy number abnormalities in meningiomasEuropean Journal of Human Genetics
Ponencia2008Ntrk3, a gene involved in the enteric nervous system development, is related to hirschsprung diseaseEuropean Journal of Human Genetics
Artículo2008Provision and quality assurance of preimplantation genetic diagnosis in EuropeEuropean Journal of Human Genetics
Artículo2007Genetic analysis of the GRM1 gene in human melanoma susceptibilityEuropean Journal of Human Genetics
Artículo1999Mutation analysis of the RPGR gene reveals novel mutations in south European patients with X-linked retinitis pigmentosaEuropean Journal of Human Genetics