Publications en collaboration avec des chercheurs de Newcastle University (4)

2024

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

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

2020

  1. Interaction between KDELR2 and HSP47 as a Key Determinant in Osteogenesis Imperfecta Caused by Bi-allelic Variants in KDELR2

    American Journal of Human Genetics, Vol. 107, Núm. 5, pp. 989-999

2014

  1. Reduced visual surround suppression in schizophrenia shown by measuring contrast detection thresholds

    Frontiers in Psychology, Vol. 5, Núm. DEC

2009

  1. Widening the mutation spectrum of EVC and EVC2: Ectopic expression of Weyer variants in NIH 3T3 fibroblasts disrupts hedgehog signaling

    Human Mutation, Vol. 30, Núm. 12, pp. 1667-1675