Publicacións (13) Publicacións nas que participase algún/ha investigador/a

filter_list Genetics, Medical

2022

  1. MODY probability calculator utility in individuals' selection for genetic testing: Its accuracy and performance

    Endocrinology, Diabetes and Metabolism, Vol. 5, Núm. 5

2019

  1. Neurodevelopmental Disorders and Array-Based Comparative Genomic Hybridization: Sensitivity and Specificity using a Criteria Checklist for Genetic Test Performance

    Neuropediatrics, Vol. 50, Núm. 3, pp. 164-169

  2. Research activity and capability in the European reference network MetabERN

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

2018

  1. Correction to: Age at disease onset and peak ammonium level rather than interventional variables predict the neurological outcome in urea cycle disorders (Journal of Inherited Metabolic Disease, (2016), 39, 5, (661-672), 10.1007/s10545-016-9938-9)

    Journal of Inherited Metabolic Disease

  2. Correction to: Impact of age at onset and newborn screening on outcome in organic acidurias (Journal of Inherited Metabolic Disease, (2016), 39, 3, (341-353), 10.1007/s10545-015-9907-8)

    Journal of Inherited Metabolic Disease

  3. Prioritization of variants detected by next generation sequencing according to the mutation tolerance and mutational architecture of the corresponding genes

    International Journal of Molecular Sciences, Vol. 19, Núm. 6

2017

  1. Erratum to: Longitudinal volumetric and 2D assessment of cerebellar atrophy in a large cohort of children with phosphomannomutase deficiency (PMM2-CDG) (J Inherit Metab Dis, 10.1007/s10545–017–0028-4)

    Journal of Inherited Metabolic Disease

  2. Homozygous truncating mutation in prenatally expressed skeletal isoform of TTN gene results in arthrogryposis multiplex congenita and myopathy without cardiac involvement

    Neuromuscular Disorders, Vol. 27, Núm. 2, pp. 188-192

  3. Nonketotic hyperglycinemia: Functional assessment of missense variants in GLDC to understand phenotypes of the disease

    Human Mutation, Vol. 38, Núm. 6, pp. 678-691

2013

  1. Molecular epidemiology and genotype-phenotype correlation in phenylketonuria patients from South Spain

    Journal of Human Genetics, Vol. 58, Núm. 5, pp. 279-284

2012

  1. Molecular analysis of mucopolysaccharidosis IVA (Morquio A) in Spain

    Molecular Genetics and Metabolism, Vol. 106, Núm. 2, pp. 196-201

2011

  1. Evaluation and long-term follow-up of infants with inborn errors of metabolism identified in an expanded screening programme

    Molecular Genetics and Metabolism, Vol. 104, Núm. 4, pp. 470-475

2006

  1. Mutation spectra of ABCC8 gene in Spanish patients with Hyperinsulinism of Infancy (HI).

    Human mutation, Vol. 27, Núm. 2, pp. 214