Publicacións (51) Publicacións nas que participase algún/ha investigador/a

2016

  1. A Calcitonin Non-producing Neuroendocrine Tumor of the Thyroid Gland

    Endocrine Pathology, Vol. 27, Núm. 4, pp. 325-331

  2. A European spectrum of pharmacogenomic biomarkers: Implications for clinical pharmacogenomics

    PLoS ONE, Vol. 11, Núm. 9

  3. A suppressor locus for MODY3-diabetes

    Scientific Reports, Vol. 6

  4. Aicardi-goutières syndrome due to mutation of the IFIH1 gene with pontine involvement. A case report

    Revista de Neurologia, Vol. 63, Núm. 7, pp. 309-314

  5. Alcohol and breast cancer tumor subtypes in a Spanish Cohort

    SpringerPlus, Vol. 5, Núm. 1, pp. 1-9

  6. Altered functional connectivity of the default mode network in Williams syndrome: a multimodal approach

    Developmental Science, Vol. 19, Núm. 4, pp. 686-695

  7. Association of a let-7 miRNA binding region of TGFBR1 with hereditary mismatch repair proficient colorectal cancer (MSS HNPCC)

    Carcinogenesis, Vol. 37, Núm. 8, pp. 751-758

  8. Bilateral pallidal deep brain stimulation in myoclonus-dystonia: our experience in three cases and their follow-up

    Acta Neurochirurgica, Vol. 158, Núm. 10, pp. 2023-2028

  9. Cognitive and emotional impairments in obsessive-compulsive disorder: Evidence from functional brain alterations

    Porto Biomedical Journal, Vol. 1, Núm. 3, pp. 92-105

  10. Combined genetic and splicing analysis of BRCA1 c.[594-2A>C; 641A>G] highlights the relevance of naturally occurring in-frame transcripts for developing disease gene variant classification algorithms

    Human Molecular Genetics, Vol. 25, Núm. 11, pp. 2256-2268

  11. Common genetic variation associated with increased susceptibility to prostate cancer does not increase risk of radiotherapy toxicity

    British Journal of Cancer, Vol. 114, Núm. 10, pp. 1165-1174

  12. Comprehensive molecular testing in patients with high functioning autism spectrum disorder

    Mutation Research - Fundamental and Molecular Mechanisms of Mutagenesis, Vol. 784-785, pp. 46-52

  13. D5S2500 is an ambiguously characterized STR: Identification and description of forensic microsatellites in the genomics age.

    Forensic Science International: Genetics, Vol. 23, pp. 19-24

  14. Development of a methylation marker set for forensic age estimation using analysis of public methylation data and the Agena Bioscience EpiTYPER system

    Forensic Science International: Genetics, Vol. 24, pp. 65-74

  15. EGFR testing and clinical management of advanced NSCLC: A galician lung cancer group study (GGCP 048-10)

    Cancer Management and Research, Vol. 8, pp. 11-20

  16. Exon-focused genome-wide association study of obsessive-compulsive disorder and shared polygenic risk with schizophrenia

    Translational Psychiatry, Vol. 6, Núm. 3

  17. Familial dilated cardiomyopathy caused by a novel frameshift in the BAG3 gene

    PLoS ONE, Vol. 11, Núm. 7

  18. Genetic investigation of sudden unexpected death in epilepsy cohort by panel target resequencing

    International Journal of Legal Medicine, Vol. 130, Núm. 2, pp. 331-339

  19. Genetic structure of the Kuwaiti population revealed by paternal lineages

    American Journal of Human Biology, Vol. 28, Núm. 2, pp. 203-212

  20. Gene–gene interactions between DRD3, MRP4 and CYP2B6 polymorphisms and its influence on the pharmacokinetic parameters of efavirenz in HIV infected patients

    Drug Metabolism and Pharmacokinetics, Vol. 31, Núm. 5, pp. 349-355