Publicacións en colaboración con investigadores/as de University Medical Center Freiburg (6)

2024

  1. Bardet-Biedl syndrome improved diagnosis criteria and management: Inter European Reference Networks consensus statement and recommendations

    European Journal of Human Genetics

2022

  1. Comparison of protocols with respiratory-gated (4D) motion compensation in PET/CT: open-source package for quantification of phantom image quality

    EJNMMI Physics, Vol. 9, Núm. 1

2012

  1. 47,X,idic(Y),inv dup(Y): A non-mosaic case of a phenotypically normal boy with two different Y isochromosomes and neocentromere formation

    Cytogenetic and Genome Research, Vol. 136, Núm. 2, pp. 157-162

2011

  1. Heterogeneity of pericentric inversions of the human y chromosome

    Cytogenetic and Genome Research, Vol. 132, Núm. 4, pp. 219-226

2009

  1. Chromosomal evolution of the PKD1 gene family in primates

    BMC Evolutionary Biology, Vol. 9, Núm. 1

2008

  1. Chromosomal evolution of the PKD1 gene family in primates

    BMC Evolutionary Biology, Vol. 8, Núm. 1