Publications en collaboration avec des chercheurs de Hospital Universitario Central de Asturias (8)

2023

  1. Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: Addition of 67 new patients

    Journal of Medical Genetics, Vol. 60, Núm. 7, pp. 644-654

2021

  1. Author Correction: Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications (Scientific Reports, (2021), 11, 1, (1526), 10.1038/s41598-021-81093-y)

    Scientific Reports

  2. Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications

    Scientific Reports, Vol. 11, Núm. 1

2015

  1. Delineation of the clinically recognizable 17q22 contiguous gene deletion syndrome in a patient carrying the smallest microdeletion known to date

    American Journal of Medical Genetics, Part A, Vol. 167, Núm. 9, pp. 2034-2041

2012

  1. A novel mutation in the IRF6 gene associated with facial asymmetry in a family affected with Van der Woude Syndrome

    Pediatric Dermatology, Vol. 29, Núm. 6, pp. 768-770

2010

  1. Hipocondroplasia. Diagnóstico clínico, radiológico y genético. A propósito de dos observaciones precoces

    Revista Espanola de Pediatria, Vol. 66, Núm. 3, pp. 167-170

  2. Incontinentia pigmenti con inicio clínico atípico

    Anales de Pediatria, Vol. 72, Núm. 1, pp. 82-83

2009

  1. Síndrome de Aarskog-Scott. A propósito de un caso con identificación molecular de la mutación génica

    Acta Pediatrica Espanola, Vol. 67, Núm. 11, pp. 542-544