Publikationen in Zusammenarbeit mit Forschern von Guy's Hospital (3)

2019

  1. The phenotype of Sotos syndrome in adulthood: A review of 44 individuals

    American Journal of Medical Genetics, Part C: Seminars in Medical Genetics, Vol. 181, Núm. 4, pp. 502-508

2016

  1. Phenotype and genotype in 52 patients with Rubinstein–Taybi syndrome caused by EP300 mutations

    American Journal of Medical Genetics, Part A, Vol. 170, Núm. 12, pp. 3069-3082

2015

  1. Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1

    American Journal of Medical Genetics, Part A, Vol. 167, Núm. 2, pp. 296-312