Genetic
Service
Publications by the researcher in collaboration with Francisco Barros Angueira (7)
2024
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Genetic linkage analysis of head and neck cancer in a Spanish family
Oral Diseases, Vol. 30, Núm. 3, pp. 1032-1039
2022
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Trio-based exome sequencing reveals a high rate of the de novo variants in intellectual disability
European Journal of Human Genetics, Vol. 30, Núm. 8, pp. 938-945
2020
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Clinical and neurophysiological response to ephedrine in a patient affected with slow-channel congenital myasthenic syndrome
Revista de Neurologia, Vol. 71, Núm. 6, pp. 221-224
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Efficacy and toxicity of adjuvant chemotherapy on colorectal cancer patients: how much influence from the genetics?
Journal of Chemotherapy, pp. 1-13
2015
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Female patient with autistic disorder, intellectual disability, and co-morbid anxiety disorder: Expanding the phenotype associated with the recurrent 3q13.2-q13.31 microdeletion
American Journal of Medical Genetics, Part A, Vol. 167, Núm. 12, pp. 3121-3129
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Interstitial microdeletions including the chromosome band 4q13.2 and the UBA6 gene as possible causes of intellectual disability and behavior disorder
American Journal of Medical Genetics, Part A, Vol. 167, Núm. 12, pp. 3113-3120
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