Publicaciones en colaboración con investigadoras/es de Instituto de Investigación Sanitaria Biocruces Bizkaia (12)

2023

  1. 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

2020

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

    Frontiers in Neurology, Vol. 11

  2. 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

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