Publikationen, an denen er mitarbeitet Julián Nevado Blanco (4)

2024

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

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

2022

  1. Preimplantation genetic testing for a chr14q32 microdeletion in a family with Kagami-Ogata syndrome and Temple syndrome

    Journal of Medical Genetics, Vol. 59, Núm. 3, pp. 253-261

2016

  1. Clinical and molecular analyses of Beckwith–Wiedemann syndrome: Comparison between spontaneous conception and assisted reproduction techniques

    American Journal of Medical Genetics, Part A, Vol. 170, Núm. 10, pp. 2740-2749

2011

  1. Constitutional mosaic genome-wide uniparental disomy due to diploidisation: An unusual cancer-predisposing mechanism

    Journal of Medical Genetics, Vol. 48, Núm. 3, pp. 212-216