Publications en collaboration avec des chercheurs de Centro de Investigación Cooperativa en Biotecnología (10)

2024

  1. Hypomagnesaemia with varying degrees of extrarenal symptoms as a consequence of heterozygous CNNM2 variants

    Scientific Reports, Vol. 14, Núm. 1

2020

  1. Variability in Cerebrospinal Fluid MicroRNAs Through Life

    Molecular Neurobiology, Vol. 57, Núm. 10, pp. 4134-4142

2019

  1. A comprehensive study of vesicular and non-vesicular miRNAs from a volume of cerebrospinal fluid compatible with clinical practice

    Theranostics, Vol. 9, Núm. 16, pp. 4567-4579

  2. NMR-based newborn urine screening for optimized detection of inherited errors of metabolism

    Scientific Reports, Vol. 9, Núm. 1

2017

  1. An update on the use of benzoate, phenylacetate and phenylbutyrate ammonia scavengers for interrogating and modifying liver nitrogen metabolism and its implications in urea cycle disorders and liver disease

    Expert Opinion on Drug Metabolism and Toxicology, Vol. 13, Núm. 4, pp. 439-448

2009

  1. Exploring the diabetogenicity of the HLA-B18-DR3 CEH: Independent association with T1D genetic risk close to HLA-DOA

    Genes and Immunity, Vol. 10, Núm. 6, pp. 596-600

2008

  1. Combined Functional and Positional Gene Information for the Identification of Susceptibility Variants in Celiac Disease

    Gastroenterology, Vol. 134, Núm. 3, pp. 738-746

  2. Reply

    Gastroenterology

  3. The functional R620W variant of the PTPN22 gene is associated with celiac disease

    Tissue Antigens, Vol. 71, Núm. 3, pp. 247-249

2006

  1. Conserved extended haplotypes discriminate HLA-DR3-homozygous Basque patients with type 1 diabetes mellitus and celiac disease

    Genes and Immunity, Vol. 7, Núm. 7, pp. 550-554