Publicacións en colaboración con investigadores/as de Universidade da Coruña (19)

2023

  1. Expanding the Clinical and Molecular Spectrum of FOXG1- and ZBTB18-Associated Neurodevelopmental Disorders

    Cytogenetic and genome research, Vol. 163, Núm. 5-6, pp. 301-306

2022

  1. Corticospinal tract and motor cortex degeneration in pure hereditary spastic paraparesis type 4 (SPG4)

    Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, Vol. 23, Núm. 1-2, pp. 25-34

  2. Tract-specific damage at spinal cord level in pure hereditary spastic paraplegia type 4: a diffusion tensor imaging study

    Journal of Neurology, Vol. 269, Núm. 6, pp. 3189-3203

2021

  1. Dilated cardiomyopathy and mild limb girdle muscular dystrophy caused by the p.Gly424Ser genetic variant in the fukutin gene

    Revista Espanola de Cardiologia, Vol. 74, Núm. 11, pp. 987-989

  2. LIPG endothelial lipase and breast cancer risk by subtypes

    Scientific Reports, Vol. 11, Núm. 1

  3. The risk of thrombosis in essential thrombocythemia is associated with the type of CALR mutation: A multicentre collaborative study

    European Journal of Haematology, Vol. 106, Núm. 3, pp. 371-379

2018

  1. V232D mutation in patients with cystic fibrosis Not so rare, not so mild

    Medicine (United States), Vol. 97, Núm. 28

2016

  1. Synaptotagmin XI in Parkinson's disease: New evidence from an association study in Spain and Mexico

    Journal of the Neurological Sciences, Vol. 362, pp. 321-325

2015

  1. Herramientas bioinformáticas para la investigación en cáncer colorrectal

    Abordaje multidisciplinar de cáncer colorrectal (Andavira), pp. 515-532

2014

  1. "New turns from old STaRs": Enhancing the capabilities of forensic short tandem repeat analysis

    Electrophoresis, Vol. 35, Núm. 21-22, pp. 3173-3187

  2. Global population variability in Qiagen Investigator HDplex STRs

    Forensic Science International: Genetics, Vol. 8, Núm. 1, pp. 36-43

2013

  1. Development of a novel forensic STR multiplex for ancestry analysis and extended identity testing

    Electrophoresis, Vol. 34, Núm. 8, pp. 1151-1162

2011

  1. An update of in Silico tools for the prediction of pathogenesis in Missense variants

    Current Bioinformatics, Vol. 6, Núm. 2, pp. 185-198

  2. Synthesis, structure, and biological activity of des-side Chain analogues of 1α,25-Dihydroxyvitamin D3 with substituents at C18

    ChemMedChem, Vol. 6, Núm. 5, pp. 788-793

2008

  1. Papilomatosis oral

    Revista Clinica Espanola, Vol. 208, Núm. 6, pp. 305-306

  2. Y chromosome microsatellite genetic variation in two Native American populations from Argentina: Population stratification and mutation data

    Forensic Science International: Genetics, Vol. 2, Núm. 4, pp. 274-280

2007

  1. Testing for genetic structure in different urban Argentinian populations

    Forensic Science International, Vol. 165, Núm. 1, pp. 35-40

2002

  1. Ectopic adrenocorticotropic hormone production by a noncatecholamine secreting pheochromocytoma

    Journal of Urology, Vol. 167, Núm. 6, pp. 2514-2515

  2. New method to measure minisatellite variant repeat variation in population genetic studies

    American Journal of Human Biology, Vol. 14, Núm. 4, pp. 421-428