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Diagnostic Accuracy of an At-Home, Rapid Self-test for Influenza: Prospective Comparative Accuracy Study.
- Published in:
- JMIR Public Health & Surveillance, 2022, v. 8, n. 2, p. 1, doi. 10.2196/28268
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- Publication type:
- Article
Genetic ancestry, population sub-structure, and cardiovascular disease-related traits among African-American participants in the CARDIA Study.
- Published in:
- Human Genetics, 2007, v. 121, n. 5, p. 565, doi. 10.1007/s00439-007-0350-2
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- Publication type:
- Article
TagSNP evaluation for the association of 42 inflammation loci and vascular disease: evidence of IL6, FGB, ALOX5, NFKBIA, and IL4R loci effects.
- Published in:
- Human Genetics, 2007, v. 121, n. 1, p. 65, doi. 10.1007/s00439-006-0289-8
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- Publication type:
- Article
Efficient selection of tagging single-nucleotide polymorphisms in multiple populations.
- Published in:
- Human Genetics, 2006, v. 120, n. 1, p. 58, doi. 10.1007/s00439-006-0182-5
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- Publication type:
- Article
Allelic spectrum of the natural variation in CRP.
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- Human Genetics, 2006, v. 119, n. 5, p. 496, doi. 10.1007/s00439-006-0160-y
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- Publication type:
- Article
Sequence diversity, natural selection and linkage disequilibrium in the human T cell receptor alpha/delta locus.
- Published in:
- Human Genetics, 2006, v. 119, n. 3, p. 255, doi. 10.1007/s00439-005-0111-z
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- Publication type:
- Article
The effects of scale: variation in the APOA1/C3/A4/A5 gene cluster.
- Published in:
- Human Genetics, 2004, v. 115, n. 1, p. 36, doi. 10.1007/s00439-004-1106-x
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- Article
Sequence polymorphism at the human apolipoprotein AII gene (APOA2): unexpected deficit of variation in an African-American sample.
- Published in:
- 2002
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- Publication type:
- Erratum
Sequence polymorphism at the human apolipoprotein AII gene (APOA2): unexpected deficit of variation in an African-American sample.
- Published in:
- Human Genetics, 2002, v. 111, n. 1, p. 75, doi. 10.1007/s00439-002-0763-x
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- Publication type:
- Article
Sequence variants in nine different genes underlying rare skin disorders in 10 consanguineous families.
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- International Journal of Dermatology, 2017, v. 56, n. 12, p. 1406, doi. 10.1111/ijd.13778
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- Article
Novel mutations in the genes TGM1 and ALOXE3 underlying autosomal recessive congenital ichthyosis.
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- International Journal of Dermatology, 2016, v. 55, n. 5, p. 524, doi. 10.1111/ijd.12950
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- Publication type:
- Article
Association of Polymorphisms in the CRP Gene With Circulating C-Reactive Protein Levels and Cardiovascular Events.
- Published in:
- JAMA: Journal of the American Medical Association, 2006, v. 296, n. 22, p. 2703, doi. 10.1001/jama.296.22.2703
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- Publication type:
- Article
A vascular endothelial growth factor A genetic variant is associated with improved ventricular function and transplant-free survival after surgery for non-syndromic CHD.
- Published in:
- 2018
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- Publication type:
- journal article
Remote Household Observation for Noninfluenza Respiratory Viral Illness.
- Published in:
- Clinical Infectious Diseases, 2021, v. 73, n. 11, p. e4411, doi. 10.1093/cid/ciaa1719
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- Publication type:
- Article
Incidence of Medically Attended Acute Respiratory Illnesses Due to Respiratory Viruses Across the Life Course During the 2018/19 Influenza Season.
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- Clinical Infectious Diseases, 2021, v. 73, n. 5, p. 802, doi. 10.1093/cid/ciab131
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- Publication type:
- Article
FAM92A Underlies Nonsyndromic Postaxial Polydactyly in Humans and an Abnormal Limb and Digit Skeletal Phenotype in Mice.
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- Journal of Bone & Mineral Research, 2019, v. 34, n. 2, p. 375, doi. 10.1002/jbmr.3594
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- Publication type:
- Article
Congenital disorder of glycosylation caused by a mutation in SSR4, the signal sequence receptor 4 protein of the TRAP complex (789.3).
- Published in:
- FASEB Journal, 2014, v. 28, p. N.PAG, doi. 10.1096/fasebj.28.1_supplement.789.3
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- Publication type:
- Article
The Genetic Landscape of Familial Pulmonary Fibrosis.
- Published in:
- American Journal of Respiratory & Critical Care Medicine, 2023, v. 207, n. 10, p. 1345, doi. 10.1164/rccm.202204-0781OC
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- Publication type:
- Article
Remote surveillance and detection of SARS-CoV-2 transmission among household members in King County, Washington.
- Published in:
- BMC Infectious Diseases, 2024, v. 24, n. 1, p. 1, doi. 10.1186/s12879-024-09160-z
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- Publication type:
- Article
Rare Variation Facilitates Inferences of Fine-Scale Population Structure in Humans.
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- Molecular Biology & Evolution, 2015, v. 32, n. 3, p. 653, doi. 10.1093/molbev/msu326
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- Publication type:
- Article
LPA and PLG Sequence Variation and Kringle IV-2 Copy Number in Two Populations.
- Published in:
- Human Heredity, 2008, v. 66, n. 4, p. 199, doi. 10.1159/000143403
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- Publication type:
- Article
Completing the map of human genetic variation.
- Published in:
- Nature, 2007, v. 447, n. 7141, p. 161, doi. 10.1038/447161a
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- Publication type:
- Article
Mapping complex disease loci in whole-genome association studies.
- Published in:
- Nature, 2004, v. 429, n. 6990, p. 446, doi. 10.1038/nature02623
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- Publication type:
- Article
Exome sequencing as a tool for Mendelian disease gene discovery.
- Published in:
- 2011
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- Publication type:
- journal article
Sentinel Surveillance System Implementation and Evaluation for SARS-CoV-2 Genomic Data, Washington, USA, 2020-2021.
- Published in:
- Emerging Infectious Diseases, 2023, v. 29, n. 2, p. 242, doi. 10.3201/eid2902.221482
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- Publication type:
- Article
Integrating Host Genomics with Surveillance for Invasive Bacterial Diseases.
- Published in:
- Emerging Infectious Diseases, 2008, v. 14, n. 7, p. 1138, doi. 10.3201/eid1407.071287
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- Publication type:
- Article
Whole-exome imputation of sequence variants identified two novel alleles associated with adult body height in African Americans.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 24, p. 6607, doi. 10.1093/hmg/ddu361
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- Publication type:
- Article
Adenylate cyclase 1 (ADCY1) mutations cause recessive hearing impairment in humans and defects in hair cell function and hearing in zebrafish.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 12, p. 3289
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- Publication type:
- Article
A new congenital disorder of glycosylation caused by a mutation in SSR4, the signal sequence receptor 4 protein of the TRAP complex.
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- Human Molecular Genetics, 2014, v. 23, n. 6, p. 1602
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- Publication type:
- Article
Altered splicing of ATP6AP2 causes X-linked parkinsonism with spasticity (XPDS).
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- Human Molecular Genetics, 2013, v. 22, n. 16, p. 3259, doi. 10.1093/hmg/ddt180
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- Article
Massively parallel sequencing and rare disease.
- Published in:
- Human Molecular Genetics, 2010, v. 19, n. R2, p. R119
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- Publication type:
- Article
Direct detection of null alleles in SNP genotyping data.
- Published in:
- Human Molecular Genetics, 2006, v. 15, n. 12, p. 1931, doi. 10.1093/hmg/ddl115
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- Publication type:
- Article
High-throughput genotyping of intermediate-size structural variation.
- Published in:
- Human Molecular Genetics, 2006, v. 15, n. 7, p. 1159, doi. 10.1093/hmg/ddl031
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- Publication type:
- Article
Comprehensive identification and characterization of diallelic insertion–deletion polymorphisms in 330 human candidate genes.
- Published in:
- Human Molecular Genetics, 2005, v. 14, n. 1, p. 59, doi. 10.1093/hmg/ddi006
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- Publication type:
- Article
Challenges and solutions for gene identification in the presence of familial locus heterogeneity.
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- European Journal of Human Genetics, 2015, v. 23, n. 9, p. 1207, doi. 10.1038/ejhg.2014.266
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- Publication type:
- Article
Pharmacogenomics of Nicotine Metabolism: Novel CYP2A6 and CYP2B6 Genetic Variation Patterns in Alaska Native and American Indian Populations.
- Published in:
- 2020
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- Publication type:
- journal article
Rare variants in ANO1, encoding a calcium-activated chloride channel, predispose to moyamoya disease.
- Published in:
- Brain: A Journal of Neurology, 2023, v. 146, n. 9, p. 3616, doi. 10.1093/brain/awad172
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- Publication type:
- Article
Novel digenic inheritance of PCDH15 and USH1G underlies profound non-syndromic hearing impairment.
- Published in:
- BMC Medical Genetics, 2018, v. 19, n. 1, p. N.PAG, doi. 10.1186/s12881-018-0618-5
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- Publication type:
- Article
Mitral regurgitation as a phenotypic manifestation of nonphotosensitive trichothiodystrophy due to a splice variant in MPLKIP.
- Published in:
- BMC Medical Genetics, 2016, v. 17, p. 1, doi. 10.1186/s12881-016-0275-5
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- Publication type:
- Article
Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.
- Published in:
- Nature, 2012, v. 485, n. 7397, p. 246, doi. 10.1038/nature10989
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- Publication type:
- Article
Targeted capture and massively parallel sequencing of 12 human exomes.
- Published in:
- Nature, 2009, v. 461, n. 7261, p. 272, doi. 10.1038/nature08250
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- Publication type:
- Article
Lung Function in African American Children with Asthma Is Associated with Novel Regulatory Variants of the KIT Ligand KITLG/SCF and Gene-By-Air-Pollution Interaction.
- Published in:
- Genetics, 2020, v. 215, n. 3, p. 869, doi. 10.1534/genetics.120.303231
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- Publication type:
- Article
LB21. The Seattle Flu Study: A Community-Based Study of Influenza.
- Published in:
- Open Forum Infectious Diseases, 2019, v. 6, p. S1002, doi. 10.1093/ofid/ofz415.2504
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- Publication type:
- Article
PolyPhred: automating the detection and genotyping of single nucleotide substitutions using fluorescence-based resequencing.
- Published in:
- Nucleic Acids Research, 1997, v. 25, n. 14, p. 2745, doi. 10.1093/nar/25.14.2745
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- Publication type:
- Article
Single-Well Genotyping of Diallelic Sequence Variations by a Two-Color Elisa-Based Oligonucleotide Ligation Assay.
- Published in:
- Nucleic Acids Research, 1996, v. 24, n. 19, p. 3728, doi. 10.1093/nar/24.19.3728
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- Publication type:
- Article
SCN1A Variants as the Underlying Cause of Genetic Epilepsy with Febrile Seizures Plus in Two Multi-Generational Colombian Families.
- Published in:
- Genes, 2022, v. 13, n. 5, p. 754, doi. 10.3390/genes13050754
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- Publication type:
- Article
Mutations in GRK2 cause Jeune syndrome by impairing Hedgehog and canonical Wnt signaling.
- Published in:
- EMBO Molecular Medicine, 2020, v. 12, n. 11, p. 1, doi. 10.15252/emmm.201911739
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- Publication type:
- Article
Association of Arrhythmia-Related Genetic Variants With Phenotypes Documented in Electronic Medical Records.
- Published in:
- 2016
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- Publication type:
- journal article
Whole-genome sequencing as an investigational device for return of hereditary disease risk and pharmacogenomic results as part of the All of Us Research Program.
- Published in:
- Genome Medicine, 2022, v. 14, n. 1, p. 1, doi. 10.1186/s13073-022-01031-z
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- Publication type:
- Article
Diversity of variant alleles encoding Kidd, Duffy, and Kell antigens in individuals with sickle cell disease using whole genome sequencing data from the NHLBI TOPMed Program.
- Published in:
- Transfusion, 2021, v. 61, n. 2, p. 603, doi. 10.1111/trf.16204
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- Publication type:
- Article