UNIOVI-PEDIATRIA
OVIPED
Mayo Clinic
Rochester, Estados UnidosPublications en collaboration avec des chercheurs de Mayo Clinic (8)
2024
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An update on clinical presentation and responses to therapy of patients with hereditary hypophosphatemic rickets with hypercalciuria (HHRH)
Kidney International, Vol. 105, Núm. 5, pp. 1058-1076
2019
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Author Correction: Genetic meta-analysis of diagnosed Alzheimer’s disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing (Nature Genetics, (2019), 51, 3, (414-430), 10.1038/s41588-019-0358-2)
Nature Genetics
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Genetic meta-analysis of diagnosed Alzheimer’s disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing
Nature Genetics, Vol. 51, Núm. 3, pp. 414-430
2014
2011
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Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's disease
Nature Genetics, Vol. 43, Núm. 5, pp. 429-436
2010
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Genetic variation of DKK3 may modify renal disease severity in ADPKD
Journal of the American Society of Nephrology, Vol. 21, Núm. 9, pp. 1510-1520
2005
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Haplotype analysis improves molecular diagnostics of autosomal recessive polycystic kidney disease
American Journal of Kidney Diseases, Vol. 45, Núm. 1, pp. 77-87
2003
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A complete mutation screen of PKHD1 in autosomal-recessive polycystic kidney disease (ARPKD) pedigrees
Kidney International, Vol. 64, Núm. 2, pp. 391-403