Publicacións (56) 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. Autosomal recessive polycystic kidney disease diagnosed in a 39 year-old women with kidney failure and cramps

    Nefrologia

  9. 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

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

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

  11. 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

  12. 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

  13. 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

  14. Correspondence: SEMA4A variation and risk of colorectal cancer

    Nature Communications

  15. 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

  16. Deep brain bilateral pallidal stimulation in chorea-acanthocytosis caused by a homozygous VPS13A mutation

    European Journal of Neurology

  17. 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

  18. 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

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

    Translational Psychiatry, Vol. 6, Núm. 3

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

    PLoS ONE, Vol. 11, Núm. 7