Publications by the researcher in collaboration with María Luisa Martínez Frías (4)

2024

  1. Genetic and phenotypic findings in 34 novel Spanish patients with DDX3X neurodevelopmental disorder

    Clinical Genetics, Vol. 105, Núm. 2, pp. 140-149

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

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

2020

  1. Further delineation of neuropsychiatric findings in Tatton-Brown-Rahman syndrome due to disease-causing variants in DNMT3A: seven new patients

    European Journal of Human Genetics, Vol. 28, Núm. 4, pp. 469-479

2006

  1. The potential of the European network of congenital anomaly registers (EUROCAT) for drug safety surveillance: A descriptive study

    Pharmacoepidemiology and Drug Safety, Vol. 15, Núm. 9, pp. 675-682