Publikationen in Zusammenarbeit mit Forschern von Universidad Autónoma de Madrid (3)

2024

  1. Identification of copy-number variants in patients with overgrowth disorders

    Clinical Genetics, Vol. 106, Núm. 5, pp. 614-624

2022

  1. FOSL2 truncating variants in the last exon cause a neurodevelopmental disorder with scalp and enamel defects

    Genetics in Medicine, Vol. 24, Núm. 12, pp. 2475-2486

2018

  1. Parental mosaicism in PAX6 causes intra-familial variability: Implications for genetic counseling of congenital aniridia and microphthalmia

    Frontiers in Genetics, Vol. 9, Núm. OCT