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1.
Autosomal dominant non-syndromic hearing loss maps to DFNA33 (13q34) and co-segregates with splice and frameshift variants in ATP11A, a phospholipid flippase gene.
Hum Genet
; 141(3-4): 431-444, 2022 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-35278131
2.
Endotypes of primary osteoarthritis identified by plasma metabolomics analysis.
Rheumatology (Oxford)
; 60(6): 2735-2744, 2021 06 18.
Artículo
en Inglés
| MEDLINE | ID: mdl-33159799
3.
Genetic Variants of the Beta-Adrenergic Receptor Pathways as Both Risk and Protective Factors for Retinopathy of Prematurity.
Am J Ophthalmol
; 263: 179-187, 2024 Jan 14.
Artículo
en Inglés
| MEDLINE | ID: mdl-38224928
4.
Highly variable hearing loss due to POU4F3 (c.37del) is revealed by longitudinal, frequency specific analyses.
Eur J Hum Genet
; 31(7): 815-823, 2023 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-37072551
5.
Metabolomic signatures for the longitudinal reduction of muscle strength over 10 years.
Skelet Muscle
; 12(1): 4, 2022 02 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-35130970
6.
A comprehensive analysis of SNPs and CNVs identifies novel markers associated with disease outcomes in colorectal cancer.
Mol Oncol
; 15(12): 3329-3347, 2021 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-34309201
7.
A dominant RAD51C pathogenic splicing variant predisposes to breast and ovarian cancer in the Newfoundland population due to founder effect.
Mol Genet Genomic Med
; 8(2): e1070, 2020 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-31782267
8.
Germline INDELs and CNVs in a cohort of colorectal cancer patients: their characteristics, associations with relapse-free survival time, and potential time-varying effects on the risk of relapse.
Cancer Med
; 6(6): 1220-1232, 2017 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-28544645
9.
No associations of a set of SNPs in the Vascular Endothelial Growth Factor (VEGF) and Matrix Metalloproteinase (MMP) genes with survival of colorectal cancer patients.
Cancer Med
; 5(9): 2221-31, 2016 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-27334288
10.
A Survival Association Study of 102 Polymorphisms Previously Associated with Survival Outcomes in Colorectal Cancer.
Biomed Res Int
; 2015: 968743, 2015.
Artículo
en Inglés
| MEDLINE | ID: mdl-26064972
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