Enrique Galán Gómez-rekin lankidetzan egindako argitalpenak (5)

2024

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

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

2022

  1. Variability in Phelan-McDermid Syndrome in a Cohort of 210 Individuals

    Frontiers in Genetics, Vol. 13

2021

  1. Schuurs-Hoeijmakers Syndrome (PACS1 Neurodevelopmental Disorder): Seven Novel Patients and a Review

    Genes, Vol. 12, Núm. 5

2008

  1. Unrelated chromosomal anomalies found in patients with suspected 22q11.2 deletion

    American Journal of Medical Genetics, Part A, Vol. 146, Núm. 9, pp. 1134-1141

2005

  1. Beckwith-Wiedemann syndrome due to 11p15.5 paternal duplication associated with Klinefelter syndrome and a "de novo" pericentric inversion of chromosome Y

    European Journal of Medical Genetics, Vol. 48, Núm. 2, pp. 159-166