Publicaciones en las que colabora con GUIOMAR PEREZ DE NANCLARES LEAL (7)

2023

  1. Analysis of a large case series of fatal familial insomnia to determine tests with the highest diagnostic value

    Journal of neuropathology and experimental neurology, Vol. 82, Núm. 2, pp. 169-179

  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. Familial endometrial adenocarcinoma: MSH6 variant of unknown significance in the presence of phenocopy, what should be done?

    Revista Espanola de Patologia, Vol. 55, pp. S16-S20

2021

  1. Sporadic Creutzfeldt–Jakob disease with extremely long 14-year survival period

    European Journal of Neurology, Vol. 28, Núm. 9, pp. 2901-2906

2020

  1. Prenatal and foetal autopsy findings in glutaric aciduria type II

    Birth Defects Research, Vol. 112, Núm. 19, pp. 1738-1749

2013

  1. Disomy as the genetic underlying mechanisms of loss of heterozigosity in SDHD-paragangliomas

    Journal of Clinical Endocrinology and Metabolism, Vol. 98, Núm. 5

2006

  1. Killer Cell Immunoglobulin-Like Receptor (KIR) Genes in the Basque Population: Association Study of KIR Gene Contents With Type 1 Diabetes Mellitus

    Human Immunology, Vol. 67, Núm. 1-2, pp. 118-124