Publicaciones en colaboración con investigadores/as de Instituto de Investigación Sanitaria Biocruces Bizkaia (14)

2024

  1. Clinical, glycometric features and treatment in a family with monogenic diabetes due to a new mutation in the insulin gene

    Endocrinologia, Diabetes y Nutricion, Vol. 71, Núm. 2, pp. 77-82

  2. Serum and Urine Metabolomic Profiling of Newly Diagnosed Treatment-Naïve Inflammatory Bowel Disease Patients

    Inflammatory Bowel Diseases, Vol. 30, Núm. 2, pp. 167-182

2023

  1. A second update on mapping the human genetic architecture of COVID-19

    Nature

  2. Adaptation, reliability and validity of health-related quality of life questionnaires: Disabkids chronic and specific diabetes disease in children and adolescents with diabetes mellitus type 1

    Endocrinologia, Diabetes y Nutricion, Vol. 70, pp. 18-26

  3. Correction: Vitamin C and folate status in hereditary fructose intolerance (European Journal of Clinical Nutrition, (2022), 76, 12, (1733-1739), 10.1038/s41430-022-01178-3)

    European Journal of Clinical Nutrition

  4. Erratum to: Mapping the human genetic architecture of COVID-19 (Nature, (2021), 600, 7889, (472-477), 10.1038/s41586-021-03767-x)

    Nature

  5. Genetic reanalysis of patients with a difference of sex development carrying the NR5A1/SF-1 variant p.Gly146Ala has discovered other likely disease-causing variations

    PloS one, Vol. 18, Núm. 7, pp. e0287515

2022

  1. Identification and Functional Analysis of a Novel CTNNB1 Mutation in Pediatric Medulloblastoma

    Cancers, Vol. 14, Núm. 2

  2. Novel genes and sex differences in COVID-19 severity

    Human molecular genetics, Vol. 31, Núm. 22, pp. 3789-3806

  3. Vitamin C and folate status in hereditary fructose intolerance

    European Journal of Clinical Nutrition, Vol. 76, Núm. 12, pp. 1733-1739

2021

  1. Familiar hypocalciuric hypercalcemia: Biochemical and genetic characterization of a family

    Medicina Clinica

  2. Mapping the human genetic architecture of COVID-19

    Nature, Vol. 600, Núm. 7889, pp. 472-477

2020

  1. Familial central diabetes insipidus

    Medicina Clinica, Vol. 155, Núm. 12, pp. 559-560

2019

  1. Asymmetric dimethylarginine as a potential biomarker for management and follow-up of phenylketonuria

    European Journal of Pediatrics