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Parametric Linkage Analysis Identifies Five Novel Genome-Wide Significant Loci for Familial Lung Cancer.
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- Human Heredity, 2017, v. 82, n. 1/2, p. 64, doi. 10.1159/000479028
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- Article
Meta-analysis of genome-wide association studies in five cohorts reveals common variants in RBFOX1, a regulator of tissue-specific splicing, associated with refractive error.
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- Human Molecular Genetics, 2013, v. 22, n. 13, p. 2754
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- Article
Variants of the elongator protein 3 (ELP3) gene are associated with motor neuron degeneration.
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- Human Molecular Genetics, 2009, v. 18, n. 3, p. 472, doi. 10.1093/hmg/ddn375
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- Article
Genetic heterogeneity in Finnish hereditary prostate cancer using ordered subset analysis.
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- European Journal of Human Genetics, 2013, v. 21, n. 4, p. 437, doi. 10.1038/ejhg.2012.185
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- Article
Ancestry of the Timorese: age-related macular degeneration associated genotype and allele sharing among human populations from throughout the world.
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- Frontiers in Genetics, 2015, p. 1, doi. 10.3389/fgene.2015.00238
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- Article
Effect of statin treatment on metabolites, lipids and prostanoids in patients with Statin Associated Muscle Symptoms (SAMS).
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- PLoS ONE, 2023, v. 18, n. 12, p. 1, doi. 10.1371/journal.pone.0294498
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- Article
Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia.
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- Nature Genetics, 2013, v. 45, n. 6, p. 712, doi. 10.1038/ng0613-712b
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- Article
Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia.
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- Nature Genetics, 2013, v. 45, n. 3, p. 314, doi. 10.1038/ng.2554
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- Article
The genetic dissection of Myo7a gene expression in the retinas of BXD mice.
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- Molecular Vision, 2018, v. 24, p. 115
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- Article
Myopia in Chinese families shows linkage to 10q26.13.
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- Molecular Vision, 2018, v. 24, p. 29
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- Article
Familial Lung Cancer: A Brief History from the Earliest Work to the Most Recent Studies.
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- Genes, 2017, v. 8, n. 1, p. 36, doi. 10.3390/genes8010036
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Exome genotyping and linkage analysis identifies two novel linked regions and replicates two others for myopia in Ashkenazi Jewish families.
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- BMC Medical Genetics, 2019, v. 20, n. 1, p. 1, doi. 10.1186/s12881-019-0752-8
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- Article
Genome-Wide Meta-Analysis of Myopia and Hyperopia Provides Evidence for Replication of 11 Loci.
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- PLoS ONE, 2014, v. 9, n. 9, p. 1, doi. 10.1371/journal.pone.0107110
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- Article
Genome-wide scans of myopia in Pennsylvania Amish families reveal significant linkage to 12q15, 8q21.3 and 5p15.33.
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- Human Genetics, 2019, v. 138, n. 4, p. 339, doi. 10.1007/s00439-019-01991-0
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- Article
Fetal High-Risk APOL1 Genotype Increases Risk for Small for Gestational Age in Term Infants Affected by Preeclampsia.
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- Neonatology (16617800), 2023, v. 120, n. 4, p. 532, doi. 10.1159/000529850
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- Article
A central resource for accurate allele frequency estimation from pooled DNA genotyped on DNA microarrays.
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- Nucleic Acids Research, 2005, v. 33, n. 3, p. e25, doi. 10.1093/nar/gni028
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- Article
Old lessons learned anew: family-based methods for detecting genes responsible for quantitative and qualitative traits in the Genetic Analysis Workshop 17 mini-exome sequence data.
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- BMC Proceedings, 2011, v. 5, n. Suppl 9, p. 1, doi. 10.1186/1753-6561-5-S9-S83
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- Article
Comparison of results from tests of association in unrelated individuals with uncollapsed and collapsed sequence variants using tiled regression.
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- BMC Proceedings, 2011, v. 5, n. Suppl 9, p. 1, doi. 10.1186/1753-6561-5-S9-S15
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- Article
Performance of random forests and logic regression methods using mini-exome sequence data.
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- BMC Proceedings, 2011, v. 5, n. Suppl 9, p. 1, doi. 10.1186/1753-6561-5-S9-S104
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- Article
Large-scale pathways-based association study in amyotrophic lateral sclerosis.
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- Brain: A Journal of Neurology, 2007, v. 130, n. 9, p. 2292
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Practical Barriers and Ethical Challenges in Genetic Data Sharing.
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- International Journal of Environmental Research & Public Health, 2014, v. 11, n. 8, p. 8383, doi. 10.3390/ijerph110808383
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Regression and data mining methods for analyses of multiple rare variants in the Genetic Analysis Workshop 17 mini-exome data.
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- Genetic Epidemiology, 2011, v. 35, p. S92, doi. 10.1002/gepi.20657
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- Article
Trans-ancestry, Bayesian meta-analysis discovers 20 novel risk loci for inflammatory bowel disease in an African American, East Asian and European cohort.
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- Human Molecular Genetics, 2023, v. 32, n. 5, p. 873, doi. 10.1093/hmg/ddac269
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- Article
A novel de novo TP63 mutation in whole‐exome sequencing of a Syrian family with Oral cleft and ectrodactyly.
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- Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 8, p. 1, doi. 10.1002/mgg3.2179
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- Article
Genome-wide linkage scan for prostate cancer susceptibility in Finland: Evidence for a novel locus on 2q37.3 and confirmation of signal on 17q21-q22.
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- International Journal of Cancer, 2011, v. 129, n. 10, p. 2400, doi. 10.1002/ijc.25906
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- Article