Fundación Pública Galega de Medicina Xenómica
Centro de investigación
![Foto de Aránzazu](/img/nophoto.png)
Aránzazu
Díaz de Bustamante
Publicacións nas que colabora con Aránzazu Díaz de Bustamante (7)
2024
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Genetic and phenotypic findings in 34 novel Spanish patients with DDX3X neurodevelopmental disorder
Clinical Genetics, Vol. 105, Núm. 2, pp. 140-149
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Identification of copy-number variants in patients with overgrowth disorders
Clinical Genetics
2023
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A second update on mapping the human genetic architecture of COVID-19
Nature
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Germline mutations in WNK2 could be associated with serrated polyposis syndrome
Journal of Medical Genetics, Vol. 60, Núm. 6, pp. 557-567
2022
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Novel genes and sex differences in COVID-19 severity
Human molecular genetics, Vol. 31, Núm. 22, pp. 3789-3806
2020
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Colorectal cancer genetic variants are also associated with serrated polyposis syndrome susceptibility
Journal of Medical Genetics, Vol. 57, Núm. 10, pp. 677-682
2018
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Role of copy number variants in sudden cardiac death and related diseases: Genetic analysis and translation into clinical practice
European Journal of Human Genetics, Vol. 26, Núm. 7, pp. 1014-1025