Publications en collaboration avec des chercheurs de Hospital Universitario Araba (7)

2024

  1. Choosing the Best Tissue and Technique to Detect Mosaicism in Fibrous Dysplasia/McCune–Albright Syndrome (FD/MAS)

    Genes, Vol. 15, Núm. 1

2023

  1. Frequency of de novo variants and parental mosaicism in families with inactivating PTH/PTHrP signaling disorder type 2

    Frontiers in Endocrinology, Vol. 13

2021

  1. Design and validation of a process based on cationic niosomes for gene delivery into novel urine-derived mesenchymal stem cells

    Pharmaceutics, Vol. 13, Núm. 5

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

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

2020

  1. Novel variant in plag1 in a familial case with silver–russell syndrome suspicion

    Genes, Vol. 11, Núm. 12, pp. 1-9

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

2016

  1. Marfan Syndrome Caused by Somatic Mosaicism in an FBN1 Splicing Mutation

    Revista Espanola de Cardiologia, Vol. 69, Núm. 5, pp. 520-521