María Luisa Martínez Frías-rekin lankidetzan egindako argitalpenak (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