Publicacións nas que colabora con Alejandro Brea Fernández (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
2019
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Expanding the clinical and molecular spectrum of the CWC27-related spliceosomopathy
Journal of Human Genetics, Vol. 64, Núm. 11, pp. 1133-1136