Publications by the researcher in collaboration with BLANCA GENER QUEROL (7)
2023
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Analysis of germline variants in pediatric patients diagnosed with desmoid tumors and nuchal-type fibromas
Translational Pediatrics, Vol. 12, Núm. 9, pp. 1715-1724
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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
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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
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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
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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
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Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing
Orphanet Journal of Rare Diseases, Vol. 11, Núm. 1
2014
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Exome sequencing identifies CTSK mutations in patients originally diagnosed as intermediate osteopetrosis
Bone, Vol. 59, pp. 122-126