Fundación Pública Galega de Medicina Xenómica
Centro de investigación
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Complexo Hospitalario Universitario da Coruña
La Coruña, EspañaPublicacións en colaboración con investigadores/as de Complexo Hospitalario Universitario da Coruña (9)
2023
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A second update on mapping the human genetic architecture of COVID-19
Nature
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Expanding the Clinical and Molecular Spectrum of FOXG1- and ZBTB18-Associated Neurodevelopmental Disorders
Cytogenetic and genome research, Vol. 163, Núm. 5-6, pp. 301-306
2022
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Novel genes and sex differences in COVID-19 severity
Human molecular genetics, Vol. 31, Núm. 22, pp. 3789-3806
2021
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Dilated cardiomyopathy and mild limb girdle muscular dystrophy caused by the p.Gly424Ser genetic variant in the fukutin gene
Revista Espanola de Cardiologia, Vol. 74, Núm. 11, pp. 987-989
2008
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Large scale analysis of HCM mutations in sudden cardiac death
Forensic Science International: Genetics Supplement Series, Vol. 1, Núm. 1, pp. 549-550
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Papilomatosis oral
Revista Clinica Espanola, Vol. 208, Núm. 6, pp. 305-306
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Three novel mutations in the CFTR gene identified in Galician patients
Journal of Cystic Fibrosis, Vol. 7, Núm. 6, pp. 520-522
2007
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Clinical and molecular characterization of Wilson disease in Spanish patients
Hepatology Research, Vol. 37, Núm. 1, pp. 18-26
2002
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Ectopic adrenocorticotropic hormone production by a noncatecholamine secreting pheochromocytoma
Journal of Urology, Vol. 167, Núm. 6, pp. 2514-2515