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Multi-ancestry polygenic risk scores for venous thromboembolism.
- Published in:
- Human Molecular Genetics, 2024, v. 33, n. 18, p. 1584, doi. 10.1093/hmg/ddae097
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- Publication type:
- Article
Referral of Medically Uninsured Emergency Department Patients to Primary Care.
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- Academic Emergency Medicine, 2002, v. 9, n. 6, p. 639, doi. 10.1197/aemj.9.6.639
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- Article
Chr21 protein-protein interactions: enrichment in proteins involved in intellectual disability, autism, and late-onset Alzheimer's disease.
- Published in:
- Life Science Alliance, 2022, v. 5, n. 12, p. 1, doi. 10.26508/lsa.202101205
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- Article
Inverse Modulation of Aurora Kinase A and Topoisomerase IIα in Normal and Tumor Breast Cells upon Knockdown of Mitochondrial ASncmtRNA.
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- Non-Coding RNA, 2023, v. 9, n. 5, p. 59, doi. 10.3390/ncrna9050059
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- Article
A novel locus for autosomal recessive spastic ataxia on chromosome 17p.
- Published in:
- Human Genetics, 2007, v. 121, n. 3/4, p. 413, doi. 10.1007/s00439-007-0328-0
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- Article
Identification of potential genetic risk factors for bipolar disorder by whole-exome sequencing.
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- Translational Psychiatry, 2018, v. 8, n. 1, p. 1, doi. 10.1038/s41398-018-0291-7
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- Article
African Gene Flow Reduces Beta-Ionone Anosmia/Hyposmia Prevalence in Admixed Malagasy Populations.
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- Brain Sciences (2076-3425), 2021, v. 11, n. 11, p. 1405, doi. 10.3390/brainsci11111405
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- Publication type:
- Article
Mitochondrial ncRNA targeting induces cell cycle arrest and tumor growth inhibition of MDA-MB-231 breast cancer cells through reduction of key cell cycle progression factors.
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- Cell Death & Disease, 2019, v. 10, n. 6, p. N.PAG, doi. 10.1038/s41419-019-1649-3
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- Publication type:
- Article
Performance comparison of three DNA extraction kits on human whole-exome data from formalin-fixed paraffin-embedded normal and tumor samples.
- Published in:
- PLoS ONE, 2018, v. 13, n. 4, p. 1, doi. 10.1371/journal.pone.0195471
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- Article
A reference genetic map of C. clementina hort. ex Tan.; citrus evolution inferences from comparative mapping.
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- BMC Genomics, 2012, v. 13, n. 1, p. 593, doi. 10.1186/1471-2164-13-593
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- Article
Development and implementation of a highlymultiplexed SNP array for genetic mapping in maritime pine and comparative mapping with loblolly pine.
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- BMC Genomics, 2011, v. 12, n. 1, p. 368, doi. 10.1186/1471-2164-12-368
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- Publication type:
- Article
A new locus ( SPG46) maps to 9p21.2-q21.12 in a Tunisian family with a complicated autosomal recessive hereditary spastic paraplegia with mental impairment and thin corpus callosum.
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- Neurogenetics, 2010, v. 11, n. 4, p. 441, doi. 10.1007/s10048-010-0249-2
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- Publication type:
- Article
Measuring the Efficiency of Purging by non-random Mating in Human Populations.
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- Molecular Biology & Evolution, 2024, v. 41, n. 6, p. 1, doi. 10.1093/molbev/msae094
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- Article
Papua New Guinean Genomes Reveal the Complex Settlement of North Sahul.
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- Molecular Biology & Evolution, 2021, v. 38, n. 11, p. 5107, doi. 10.1093/molbev/msab238
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- Article
Altered spinogenesis in iPSC-derived cortical neurons from patients with autism carrying de novo SHANK3 mutations.
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- Scientific Reports, 2019, v. 9, n. 1, p. 1, doi. 10.1038/s41598-018-36993-x
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- Article
Chromosome 7p11.2 (EGFR) variation influences glioma risk.
- Published in:
- Human Molecular Genetics, 2011, v. 20, n. 14, p. 2897, doi. 10.1093/hmg/ddr192
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- Publication type:
- Article
A major susceptibility locus for HTLV-1 infection in childhood maps to chromosome 6q27.
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- Human Molecular Genetics, 2006, v. 15, n. 22, p. 3306, doi. 10.1093/hmg/ddl406
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- Publication type:
- Article
Strong selection during the last millennium for African ancestry in the admixed population of Madagascar.
- Published in:
- Nature Communications, 2018, v. 9, n. 1, p. 1, doi. 10.1038/s41467-018-03342-5
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- Article
Mutations in CFAP43 and CFAP44 cause male infertility and flagellum defects in Trypanosoma and human.
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- Nature Communications, 2018, v. 9, n. 1, p. 1, doi. 10.1038/s41467-017-02792-7
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- Publication type:
- Article
Genome-wide association study identifies multiple risk loci for renal cell carcinoma.
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- Nature Communications, 2017, v. 8, n. 6, p. 15724, doi. 10.1038/ncomms15724
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- Article
Operational tolerance after hematopoietic stem cell transplantation is characterized by distinct transcriptional, phenotypic, and metabolic signatures.
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- Science Translational Medicine, 2022, v. 14, n. 633, p. 1, doi. 10.1126/scitranslmed.abg3083
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- Article
Evidence of Austronesian Genetic Lineages in East Africa and South Arabia: Complex Dispersal from Madagascar and Southeast Asia.
- Published in:
- Genome Biology & Evolution, 2019, v. 11, n. 3, p. 748, doi. 10.1093/gbe/evz028
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- Publication type:
- Article
Monocyte transcriptomes from patients with axial spondyloarthritis reveal dysregulated monocytopoiesis and a distinct inflammatory imprint.
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- Arthritis Research & Therapy, 2021, v. 23, n. 1, p. 1, doi. 10.1186/s13075-021-02623-7
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- Article
Identification of a Major Locus, TNF1, That Controls BCG-Triggered Tumor Necrosis Factor Production by Leukocytes in an Area Hyperendemic for Tuberculosis.
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- Clinical Infectious Diseases, 2013, v. 57, n. 7, p. 963, doi. 10.1093/cid/cit438
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- Article
INPP5K and SIL1 associated pathologies with overlapping clinical phenotypes converge through dysregulation of PHGDH.
- Published in:
- 2021
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- Publication type:
- journal article
Recessive MYPN mutations cause cap myopathy with occasional nemaline rods.
- Published in:
- 2017
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- Publication type:
- journal article
TyeA, a protein involved in control of Yop release and in translocation of Yersinia Yop effectors.
- Published in:
- EMBO Journal, 1998, v. 17, n. 7, p. 1907, doi. 10.1093/emboj/17.7.1907
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- Article
A Novel Hypomorphic PDX1 Mutation Responsible for Permanent Neonatal Diabetes With Subclinical Exocrine Deficiency.
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- Diabetes, 2010, v. 59, n. 3, p. 733, doi. 10.2337/db09-1284
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- Article
WGS Revealed Novel BBS5 Pathogenic Variants, Missed by WES, Causing Ciliary Structure and Function Defects.
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- International Journal of Molecular Sciences, 2023, v. 24, n. 10, p. 8729, doi. 10.3390/ijms24108729
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- Article
Co-Transplantation of Barcoded Lymphoid-Primed Multipotent (LMPP) and Common Lymphocyte (CLP) Progenitors Reveals a Major Contribution of LMPP to the Lymphoid Lineage.
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- International Journal of Molecular Sciences, 2023, v. 24, n. 5, p. 4368, doi. 10.3390/ijms24054368
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- Article
Temporal Gene Expression Profiles Reflect the Dynamics of Lymphoid Differentiation.
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- International Journal of Molecular Sciences, 2022, v. 23, n. 3, p. 1115, doi. 10.3390/ijms23031115
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- Article
PLCG2 protective variant p.P522R modulates tau pathology and disease progression in patients with mild cognitive impairment.
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- Acta Neuropathologica, 2020, v. 139, n. 6, p. 1025, doi. 10.1007/s00401-020-02138-6
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- Publication type:
- Article
HSPB8 haploinsufficiency causes dominant adult-onset axial and distal myopathy.
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- Acta Neuropathologica, 2017, v. 134, n. 1, p. 163, doi. 10.1007/s00401-017-1724-8
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- Article
Genome-Wide Association Study of Classical Hodgkin Lymphoma and Epstein–Barr Virus Status–Defined Subgroups.
- Published in:
- JNCI: Journal of the National Cancer Institute, 2012, v. 104, n. 3, p. 240, doi. 10.1093/jnci/djr516
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- Article
The Impact of Genetic Variations in ADORA2A in the Association between Caffeine Consumption and Sleep.
- Published in:
- Genes, 2019, v. 10, n. 12, p. 1021, doi. 10.3390/genes10121021
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- Article
Proteasome subunit PSMC3 variants cause neurosensory syndrome combining deafness and cataract due to proteotoxic stress.
- Published in:
- EMBO Molecular Medicine, 2020, v. 12, n. 7, p. 1, doi. 10.15252/emmm.201911861
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- Publication type:
- Article
Exome sequencing in undiagnosed congenital myopathy reveals new genes and refines genes–phenotypes correlations.
- Published in:
- Genome Medicine, 2024, v. 16, n. 1, p. 1, doi. 10.1186/s13073-024-01353-0
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- Publication type:
- Article
Publisher Correction: Penetrance estimation of Alzheimer disease in SORL1 loss-of-function variant carriers using a family-based strategy and stratification by APOE genotypes.
- Published in:
- Genome Medicine, 2022, v. 14, n. 1, p. 1, doi. 10.1186/s13073-022-01091-1
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- Publication type:
- Article
Penetrance estimation of Alzheimer disease in SORL1 loss-of-function variant carriers using a family-based strategy and stratification by APOE genotypes.
- Published in:
- Genome Medicine, 2022, v. 14, n. 1, p. 1, doi. 10.1186/s13073-022-01070-6
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- Publication type:
- Article
A major locus on chromosome 3p22 conferring predisposition to human herpesvirus 8 infection.
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- European Journal of Human Genetics, 2012, v. 20, n. 6, p. 690, doi. 10.1038/ejhg.2011.260
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- Publication type:
- Article
Bivariate association analysis in selected samples: application to a GWAS of two bone mineral density phenotypes in males with high or low BMD.
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 6, p. 710, doi. 10.1038/ejhg.2011.22
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- Publication type:
- Article
Evidence for gene × smoking exposure interactions in a genome-wide linkage screen of asthma and bronchial hyper-responsiveness in EGEA families.
- Published in:
- European Journal of Human Genetics, 2007, v. 15, n. 7, p. 810, doi. 10.1038/sj.ejhg.5201830
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- Publication type:
- Article
A new genetic locus for antipsychotic-induced weight gain: A genome-wide study of first-episode psychosis patients using amisulpride (from the OPTiMiSE cohort).
- Published in:
- 2020
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- Publication type:
- journal article
A QTL influencing F cell production maps to a gene encoding a zinc-finger protein on chromosome 2p15.
- Published in:
- Nature Genetics, 2007, v. 39, n. 10, p. 1197, doi. 10.1038/ng2108
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- Publication type:
- Article
A major susceptibility locus for HTLV-1 infection in childhood maps to chromosome 6q27.
- Published in:
- Retrovirology, 2008, v. 5, p. 1, doi. 10.1186/1742-4690-5-S1-O6
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- Publication type:
- Article
Comprehensive Linkage and Association Analyses Identify Haplotype, Near to the TNFSF15 Gene, Significantly Associated with Spondyloarthritis.
- Published in:
- PLoS Genetics, 2009, v. 5, n. 6, p. 1, doi. 10.1371/journal.pgen.1000528
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- Publication type:
- Article
The influence of obesity-related factors in the etiology of renal cell carcinoma-A mendelian randomization study.
- Published in:
- 2019
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- Publication type:
- journal article
Very preterm birth before arrival at hospital.
- Published in:
- Australian & New Zealand Journal of Obstetrics & Gynaecology, 2018, v. 58, n. 2, p. 197, doi. 10.1111/ajo.12690
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- Article
What are we telling the parents of extremely preterm babies?
- Published in:
- Australian & New Zealand Journal of Obstetrics & Gynaecology, 2016, v. 56, n. 3, p. 274, doi. 10.1111/ajo.12448
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- Publication type:
- Article
Why birthplace still matters for infants born before 32 weeks: Infant mortality associated with birth at 22-31 weeks' gestation in non-tertiary hospitals in Victoria over two decades.
- Published in:
- Australian & New Zealand Journal of Obstetrics & Gynaecology, 2015, v. 55, n. 2, p. 163, doi. 10.1111/ajo.12313
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- Publication type:
- Article