Publikationen in Zusammenarbeit mit Forschern von University of Oxford (3)

2024

  1. The Human Phenotype Ontology in 2024: phenotypes around the world

    Nucleic acids research, Vol. 52, Núm. D1, pp. D1333-D1346

2010

  1. The first clinical case of a mutation at residue K185 of Kir6.2 (KCNJ11): A major ATP-binding residue

    Diabetic Medicine, Vol. 27, Núm. 2, pp. 225-229

2006

  1. Functional analysis of six Kir6.2 (KCNJ11) mutations causing neonatal diabetes

    Pflugers Archiv European Journal of Physiology, Vol. 453, Núm. 3, pp. 323-332