Publicacións en colaboración con investigadores/as de Fundación Pública Galega de Medicina Xenómica (11)

2024

  1. Clinical and biochemical evolution after partial dietary liberalization of two cases of galactosemia due to galactose mutarotase deficiency

    BMC Pediatrics, Vol. 24, Núm. 1

2023

  1. Expanding the Clinical and Molecular Spectrum of FOXG1- and ZBTB18-Associated Neurodevelopmental Disorders

    Cytogenetic and genome research, Vol. 163, Núm. 5-6, pp. 301-306

2021

  1. Development and evaluation of the ancestry informative marker panel of the visage basic tool

    Genes, Vol. 12, Núm. 8

2019

  1. A qPCR expression assay of IFI44L gene differentiates viral from bacterial infections in febrile children

    Scientific Reports, Vol. 9, Núm. 1

  2. Early colorectal cancers provide new evidence for a lynch syndrome-to-CMMRD phenotypic continuum

    Cancers, Vol. 11, Núm. 8

2017

  1. Autosomal recessive agammaglobulinemia due to defect in μ heavy chain caused by a novel mutation in the IGHM gene

    Genes and Immunity, Vol. 18, Núm. 3, pp. 197-199

  2. Severe neurological abnormalities in a young boy with impaired thyroid hormone sensitivity due to a novel mutation in the MCT8 gene

    Hormones, Vol. 16, Núm. 2, pp. 194-199

2013

  1. A Xq21.31 duplication without features of Prader-Willi syndrome

    Endocrine

  2. Microdeleción 2q23.1 y hallazgos sindrómicos

    Revista de Neurologia

2008

  1. Hypochondroplasia and acanthosis nigricans: A new syndrome due to the p.Lys650Thr mutation in the fibroblast growth factor receptor 3 gene?

    European Journal of Endocrinology, Vol. 159, Núm. 3, pp. 243-249

  2. Three novel mutations in the CFTR gene identified in Galician patients

    Journal of Cystic Fibrosis, Vol. 7, Núm. 6, pp. 520-522