Publicaciones en colaboración con investigadores/as de Instituto de Investigación Sanitaria Biobizkaia (19)

2024

  1. Source Data Files from publication: A Protein Misfolding Shaking Amplification-based method for the spontaneous generation of hundreds of infectious prions, Nature Communications 2024

    Zenodo

  2. Source Data Files from publication: A Protein Misfolding Shaking Amplification-based method for the spontaneous generation of hundreds of infectious prions, Nature Communications 2024

    Zenodo

2023

  1. 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

  2. Variations and different perceptions in vitamin D supplementation in the pediatric age in Spain

    Pediatria de Atencion Primaria, Vol. 25, Núm. 97, pp. e1-e13

2022

  1. Familial endometrial adenocarcinoma: MSH6 variant of unknown significance in the presence of phenocopy, what should be done?

    Revista Espanola de Patologia, Vol. 55, pp. S16-S20

  2. Vitamin C and folate status in hereditary fructose intolerance

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

2021

  1. Transferrin isoforms, old but new biomarkers in hereditary fructose intolerance

    Journal of Clinical Medicine, Vol. 10, Núm. 13

2020

  1. Hereditary Spastic Paraplegia and Intellectual Disability: Clinicogenetic Lessons From a Family Suggesting a Dual Genetics Diagnosis

    Frontiers in Neurology, Vol. 11

  2. Novel variant in plag1 in a familial case with silver–russell syndrome suspicion

    Genes, Vol. 11, Núm. 12, pp. 1-9

  3. Prenatal and foetal autopsy findings in glutaric aciduria type II

    Birth Defects Research, Vol. 112, Núm. 19, pp. 1738-1749

2018

  1. Cri-du-chat syndrome mimics Silver-Russell syndrome depending on the size of the deletion: A case report 06 Biological Sciences 0604 Genetics

    BMC Medical Genomics, Vol. 11, Núm. 1

2014

  1. Pseudohypoparathyroidism vs. tricho-rhino-phalangeal syndrome: Patient reclassification

    Journal of Pediatric Endocrinology and Metabolism, Vol. 27, Núm. 11-12, pp. 1089-1094

2013

  1. Brachydactyly E: Isolated or as a feature of a syndrome

    Orphanet Journal of Rare Diseases, Vol. 8, Núm. 1

2009

  1. MODY2 natural evolution and treatment

    HORMONE RESEARCH

  2. Neonatal diabetes: a subtype of monogenic diabetes

    HORMONE RESEARCH

  3. Severe neonatal insulin-resistance caused by compound heterozygous mutations in the insulin receptor gene

    HORMONE RESEARCH

2008

  1. Genotype-phenotype correlations in children with congenital hyperinsulinism

    HORMONE RESEARCH

  2. Monogenic diabetes due to glucokinase mutations: Clinical presentation and molecular genetic testing

    HORMONE RESEARCH

2006

  1. ACTH-dependent precocious pseudopuberty in an infant with DAX-1 gene mutation

    HORMONE RESEARCH