Publicacións nas que colabora con Francisco Barros Angueira (2)
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
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