Publicaciones en las que colabora con BLANCA GENER QUEROL (7)

2023

  1. Analysis of germline variants in pediatric patients diagnosed with desmoid tumors and nuchal-type fibromas

    Translational Pediatrics, Vol. 12, Núm. 9, pp. 1715-1724

  2. 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

2018

  1. Cri-du-chat syndrome mimics Silver-Russell syndrome depending on the size of the deletion: A case report 06 Biological Sciences 0604 Genetics

    BMC Medical Genomics, Vol. 11, Núm. 1

2016

  1. Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing

    Orphanet Journal of Rare Diseases, Vol. 11, Núm. 1

2014

  1. Exome sequencing identifies CTSK mutations in patients originally diagnosed as intermediate osteopetrosis

    Bone, Vol. 59, pp. 122-126