Departamento de Ciencias Forenses, Anatomía Patolóxica, Xinecoloxía e Obstetricia e Pediatría
Departamento
VU University Medical Center
Ámsterdam, HolandaPublicacións en colaboración con investigadores/as de VU University Medical Center (13)
2024
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Severity-adjusted evaluation of liver transplantation on health outcomes in urea cycle disorders
Genetics in Medicine, Vol. 26, Núm. 4
2023
2021
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Common variants in Alzheimer's disease and risk stratification by polygenic risk scores
Nature communications, Vol. 12, Núm. 1, pp. 3417
2019
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Identification of regulatory variants associated with genetic susceptibility to meningococcal disease
Scientific Reports, Vol. 9, Núm. 1
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Newborn screening for homocystinurias: Recent recommendations versus current practice
Journal of Inherited Metabolic Disease, Vol. 42, Núm. 1, pp. 128-139
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Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: Data from the E-HOD registry
Journal of Inherited Metabolic Disease, Vol. 42, Núm. 2, pp. 333-352
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Plasma lipid profiles discriminate bacterial from viral infection in febrile children
Scientific Reports, Vol. 9, Núm. 1
2018
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Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: data from the E-HOD registry
Journal of Inherited Metabolic Disease
2017
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Association analysis identifies 65 new breast cancer risk loci
Nature, Vol. 551, Núm. 7678, pp. 92-94
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Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer
Nature Genetics, Vol. 49, Núm. 12, pp. 1767-1778
2015
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Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1
American Journal of Medical Genetics, Part A, Vol. 167, Núm. 2, pp. 296-312
2014
1997
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Prevalence of lactose malabsorption in galicia
Journal of Pediatric Gastroenterology and Nutrition, Vol. 25, Núm. 3, pp. 296-300