Publikationen in Zusammenarbeit mit Forschern von Centro de Investigación Biomédica en Red sobre Enfermedades Raras (20)

2024

  1. Multi-locus imprinting disturbance (MLID): interim joint statement for clinical and molecular diagnosis

    Clinical Epigenetics, Vol. 16, Núm. 1

  2. Recommendations for the future management of thrombocytopenia in patients with liver cirrhosis: A modified RAND/UCLA appropriateness method

    Gastroenterologia y Hepatologia, Vol. 47, Núm. 1, pp. 32-50

2023

  1. Growth patterns and outcomes of growth hormone therapy in patients with acrodysostosis

    Journal of Endocrinological Investigation, Vol. 46, Núm. 8, pp. 1673-1684

  2. New pathogenic variant in DLX5: New clues for a clinical spectrum from split-hand-foot malformation to fibular aplasia, tibial campomelia and oligosyndactyly

    Frontiers in Genetics, Vol. 14

2022

  1. Gene co-expression architecture in peripheral blood in a cohort of remitted first-episode schizophrenia patients

    Schizophrenia, Vol. 8, Núm. 1

  2. Novel genetic variants of KHDC3L and other members of the subcortical maternal complex associated with Beckwith–Wiedemann syndrome or Pseudohypoparathyroidism 1B and multi-locus imprinting disturbances

    Clinical Epigenetics, Vol. 14, Núm. 1

  3. [Translated article] Incidence of Melanoma in the Basque Province of Álava, Spain, From 2015 to 2018: A Descriptive Study

    Actas Dermo-Sifiliograficas, Vol. 113, Núm. 2, pp. T178-T182

2021

  1. Incidence of Melanoma in the Basque Province of Álava, Spain, From 2015 to 2018: A Descriptive Study

    Actas Dermo-Sifiliograficas

  2. Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder

    Nature Communications, Vol. 12, Núm. 1

2020

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

    Frontiers in Neurology, Vol. 11

2019

  1. Genetic analyses of aplastic anemia and idiopathic pulmonary fibrosis patients with short telomeres, possible implication of DNA-repair genes

    Orphanet Journal of Rare Diseases, Vol. 14, Núm. 1

  2. Molecular and clinical characterization of a novel nonsense variant in exon 1 of the upf3b gene found in a large spanish basque family (Mrx82)

    Frontiers in Genetics, Vol. 10, Núm. OCT

  3. New insights into genetic variant spectrum and genotype–phenotype correlations of Rubinstein-Taybi syndrome in 39 CREBBP-positive patients

    Molecular Genetics and Genomic Medicine, Vol. 7, Núm. 11

2013

  1. Sporadic and reversible chromothripsis in chronic lymphocytic leukemia revealed by longitudinal genomic analysis

    Leukemia

2010

  1. Mutación de novo I172N en paciente con déficit clásico de 21-hidroxilasa

    Medicina Clinica

  2. Síndrome suprarrenogenital congénito virilizante con mutación de novo I172N: estudio de un nuevo caso

    Anales de Pediatria, Vol. 72, Núm. 1, pp. 72-78

2009

  1. ACTH-dependent precocious pseudopuberty in an infant with DAX1 gene mutation

    European Journal of Pediatrics, Vol. 168, Núm. 1, pp. 65-69

2008

  1. Genética del seudohipoparatiroidismo: Bases para el consejo genético

    Endocrinologia y Nutricion, Vol. 55, Núm. 10, pp. 476-483

  2. New mutation type in pseudohypoparathyroidism type Ia

    Clinical Endocrinology, Vol. 69, Núm. 5, pp. 705-712

  3. Our experience in the diagnosis of peroxisomal diseases with an abnormal fatty acid profile

    Revista de Neurologia, Vol. 47, Núm. 1, pp. 1-5