Publicacións nas que colabora con Beatríz Sobrino Rey (4)
2019
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Molecular and clinical characterization of a novel nonsense variant in exon 1 of the upf3b gene found in a large spanish basque family (Mrx82)
Frontiers in Genetics, Vol. 10, Núm. OCT
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Mutational analysis of CFTR in the Ecuadorian population using next-generation sequencing
Gene, Vol. 696, pp. 28-32
2018
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Whole exome sequencing approach to analysis of the origin of cancer stem cells in patients with head and neck squamous cell carcinoma
Journal of Oral Pathology and Medicine, Vol. 47, Núm. 10, pp. 938-944
2014
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A novel stop mutation in the vascular endothelial growth factor-C gene (VEGFC) results in Milroy-like disease
Journal of Medical Genetics, Vol. 51, Núm. 7, pp. 475-478