Publications en collaboration avec des chercheurs de Hospital Universitario Araba (13)

2021

  1. Author Correction: Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications (Scientific Reports, (2021), 11, 1, (1526), 10.1038/s41598-021-81093-y)

    Scientific Reports

  2. Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications

    Scientific Reports, Vol. 11, Núm. 1

2020

  1. Targeted next-generation sequencing in patients with suggestive X-linked intellectual disability

    Genes, Vol. 11, Núm. 1

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

  2. What to consider when pseudohypoparathyroidism is ruled out: IPPSD and differential diagnosis

    BMC Medical Genetics, Vol. 19, Núm. 1

2015

  1. Integrated analysis of whole-exome sequencing and transcriptome profiling in males with autism spectrum disorders

    Molecular Autism, Vol. 6, 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. Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: A case-control study

    The Lancet Neurology, Vol. 12, Núm. 12, pp. 1159-1169

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

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

  3. LRIG2 mutations cause urofacial syndrome

    American Journal of Human Genetics, Vol. 92, Núm. 2, pp. 259-264

  4. MECP2 gene study in a large cohort: Testing of 240 female patients and 861 healthy controls (519 females and 342 males)

    Journal of Molecular Diagnostics, Vol. 15, Núm. 5, pp. 723-729

  5. Synonymous mutations in RNASEH2A create cryptic splice sites impairing RNase H2 enzyme function in aicardi-Goutières syndrome

    Human Mutation, Vol. 34, Núm. 8, pp. 1066-1070

2012

  1. Xq28 duplications including MECP2 in five females: Expanding the phenotype to severe mental retardation

    European Journal of Medical Genetics, Vol. 55, Núm. 6-7, pp. 404-413