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Identification of a recurrent nonsense mutation in HR gene responsible for atrichia with papular lesions in two Kashmiri families.
- Published in:
- Journal of Gene Medicine, 2020, v. 22, n. 5, p. 1, doi. 10.1002/jgm.3167
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- Publication type:
- Article
A recurrent missense mutation in the EDAR gene causes severe autosomal recessive hypohidrotic ectodermal dysplasia in two consanguineous Kashmiri families.
- Published in:
- Journal of Gene Medicine, 2019, v. 21, n. 9, p. N.PAG, doi. 10.1002/jgm.3113
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- Publication type:
- Article
Linking a genome-wide association study signal to a LRRK2 coding variant in Parkinson's disease.
- Published in:
- 2016
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- Publication type:
- journal article
Midlife Leukocyte Telomere Length as an Indicator for Handgrip Strength in Late Life.
- Published in:
- 2021
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- Publication type:
- journal article
Mapping the genetic diversity of HLA haplotypes in the Japanese populations.
- Published in:
- Scientific Reports, 2015, p. 17855, doi. 10.1038/srep17855
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- Publication type:
- Article
Whole-genome reconstruction and mutational signatures in gastric cancer.
- Published in:
- Genome Biology, 2012, v. 13, n. 12, p. 1, doi. 10.1186/gb-2012-13-12-r115
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- Publication type:
- Article
Joint ancestry and association test indicate two distinct pathogenic pathways involved in classical dengue fever and dengue shock syndrome.
- Published in:
- PLoS Neglected Tropical Diseases, 2018, v. 12, n. 2, p. 1, doi. 10.1371/journal.pntd.0006202
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- Publication type:
- Article
MUC5AC Genetic Variation Is Associated With Tuberculous Meningitis Cerebral Spinal Fluid Cytokine Responses and Mortality.
- Published in:
- Journal of Infectious Diseases, 2023, v. 228, n. 3, p. 343, doi. 10.1093/infdis/jiad050
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- Publication type:
- Article
Biallelic variants in CHST3 cause Spondyloepiphyseal dysplasia with joint dislocations in three Pakistani kindreds.
- Published in:
- BMC Musculoskeletal Disorders, 2022, v. 23, n. 1, p. 1, doi. 10.1186/s12891-022-05719-6
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- Publication type:
- Article
Combined genotype and haplotype tests for region-based association studies.
- Published in:
- BMC Genomics, 2013, v. 14, n. 1, p. 569, doi. 10.1186/1471-2164-14-569
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- Article
Variation in predicted COVID‐19 risk among lemurs and lorises.
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- American Journal of Primatology, 2021, v. 83, n. 6, p. 1, doi. 10.1002/ajp.23255
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- Article
Interaction between cigarette smoking and genetic polymorphisms on the associations with age of natural menopause and reproductive lifespan: the Singapore Chinese Health Study.
- Published in:
- 2022
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- Publication type:
- journal article
Machine learning using genetic and clinical data identifies a signature that robustly predicts methotrexate response in rheumatoid arthritis.
- Published in:
- Rheumatology, 2022, v. 61, n. 10, p. 4175, doi. 10.1093/rheumatology/keac032
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- Publication type:
- Article
Identification of a shared genetic risk locus for Kawasaki disease and immunoglobulin A vasculitis by a cross-phenotype meta-analysis.
- Published in:
- Rheumatology, 2022, v. 61, n. 3, p. 1204, doi. 10.1093/rheumatology/keab443
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- Publication type:
- Article
CMPK1 and RBP3 are associated with corneal curvature in Asian populations.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 22, p. 6129, doi. 10.1093/hmg/ddu322
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- Publication type:
- Article
Analysis of non-synonymous-coding variants of Parkinson's disease-related pathogenic and susceptibility genes in East Asian populations.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 14, p. 3891, doi. 10.1093/hmg/ddu086
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- Publication type:
- Article
Education influences the association between genetic variants and refractive error: a meta-analysis of five Singapore studies.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 2, p. 546, doi. 10.1093/hmg/ddt431
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- Publication type:
- Article
Genome-wide association study identifies ZFHX1B as a susceptibility locus for severe myopia.
- Published in:
- Human Molecular Genetics, 2013, v. 22, n. 25, p. 5288
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- Publication type:
- Article
Comparing methods for performing trans-ethnic meta-analysis of genome-wide association studies.
- Published in:
- Human Molecular Genetics, 2013, v. 22, n. 11, p. 2303, doi. 10.1093/hmg/ddt064
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- Publication type:
- Article
Identification of four novel variants that influence central corneal thickness in multi-ethnic Asian populations.
- Published in:
- Human Molecular Genetics, 2012, v. 21, n. 19, p. 4365, doi. 10.1093/hmg/dds269
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- Publication type:
- Article
Identification of four novel variants that influence central corneal thickness in multi-ethnic Asian populations.
- Published in:
- Human Molecular Genetics, 2012, v. 21, n. 2, p. 437, doi. 10.1093/hmg/ddr463
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- Publication type:
- Article
Association of variants in FRAP1 and PDGFRA with corneal curvature in Asian populations from Singapore.
- Published in:
- Human Molecular Genetics, 2011, v. 20, n. 18, p. 3693, doi. 10.1093/hmg/ddr269
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- Publication type:
- Article
Genome-wide association studies in Asians confirm the involvement of ATOH7 and TGFBR3, and further identify CARD10 as a novel locus influencing optic disc area.
- Published in:
- Human Molecular Genetics, 2011, v. 20, n. 9, p. 1864, doi. 10.1093/hmg/ddr060
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- Publication type:
- Article
Collagen-related genes influence the glaucoma risk factor, central corneal thickness.
- Published in:
- Human Molecular Genetics, 2011, v. 20, n. 4, p. 649, doi. 10.1093/hmg/ddq511
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- Publication type:
- Article
The spatial organization of intra-tumour heterogeneity and evolutionary trajectories of metastases in hepatocellular carcinoma.
- Published in:
- Nature Communications, 2017, v. 8, n. 2, p. 4565, doi. 10.1038/ncomms14565
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- Publication type:
- Article
Mutational spectrum of Barrett's stem cells suggests paths to initiation of a precancerous lesion.
- Published in:
- Nature Communications, 2016, v. 7, n. 1, p. 10380, doi. 10.1038/ncomms10380
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- Publication type:
- Article
Identification of new susceptibility loci for IgA nephropathy in Han Chinese.
- Published in:
- Nature Communications, 2015, v. 6, n. 6, p. 7270, doi. 10.1038/ncomms8270
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- Publication type:
- Article
Identification of myopia-associated WNT7B polymorphisms provides insights into the mechanism underlying the development of myopia.
- Published in:
- Nature Communications, 2015, v. 6, n. 3, p. 6689, doi. 10.1038/ncomms7689
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- Publication type:
- Article
Meta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process.
- Published in:
- Nature Communications, 2014, v. 5, n. 9, p. 4883, doi. 10.1038/ncomms5883
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- Publication type:
- Article
Association analysis of PSAP variants in Parkinson's disease patients.
- Published in:
- 2021
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- Publication type:
- letter
Systematic immune cell dysregulation and molecular subtypes revealed by single-cell RNA-seq of subjects with type 1 diabetes.
- Published in:
- Genome Medicine, 2024, v. 16, n. 1, p. 1, doi. 10.1186/s13073-024-01300-z
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- Publication type:
- Article
A statistical method for region-based meta-analysis of genome-wide association studies in genetically diverse populations.
- Published in:
- European Journal of Human Genetics, 2012, v. 20, n. 4, p. 469, doi. 10.1038/ejhg.2011.219
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- Publication type:
- Article
Natural positive selection and north-south genetic diversity in East Asia.
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- European Journal of Human Genetics, 2012, v. 20, n. 1, p. 102, doi. 10.1038/ejhg.2011.139
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- Publication type:
- Article
Trans-ancestry genome-wide association study identifies 12 genetic loci influencing blood pressure and implicates a role for DNA methylation.
- Published in:
- Nature Genetics, 2015, v. 47, n. 11, p. 1282, doi. 10.1038/ng.3405
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- Publication type:
- Article
Variation at HLA-DRB1 is associated with resistance to enteric fever.
- Published in:
- Nature Genetics, 2014, v. 46, n. 12, p. 1333, doi. 10.1038/ng.3143
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- Publication type:
- Article
Genome-wide analysis of multi-ancestry cohorts identifies new loci influencing intraocular pressure and susceptibility to glaucoma.
- Published in:
- Nature Genetics, 2014, v. 46, n. 10, p. 1126, doi. 10.1038/ng.3087
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- Publication type:
- Article
Common variants near ABCA1 and in PMM2 are associated with primary open-angle glaucoma.
- Published in:
- Nature Genetics, 2014, v. 46, n. 10, p. 1115, doi. 10.1038/ng.3078
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- Publication type:
- Article
Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus.
- Published in:
- Nature Genetics, 2013, v. 45, n. 2, p. 155, doi. 10.1038/ng.2506
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- Publication type:
- Article
Genome-wide association analyses identify three new susceptibility loci for primary angle closure glaucoma.
- Published in:
- Nature Genetics, 2012, v. 44, n. 10, p. 1142, doi. 10.1038/ng.2390
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- Publication type:
- Article
Genome-wide association study identifies FCGR2A as a susceptibility locus for Kawasaki disease.
- Published in:
- Nature Genetics, 2011, v. 43, n. 12, p. 1241, doi. 10.1038/ng.981
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- Publication type:
- Article
Genome-wide association study identifies susceptibility loci for dengue shock syndrome at MICB and PLCE1.
- Published in:
- Nature Genetics, 2011, v. 43, n. 11, p. 1139, doi. 10.1038/ng.960
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- Publication type:
- Article
Evaluation of plasma brain-derived neurotrophic factor levels and self-perceived cognitive impairment post-chemotherapy: a longitudinal study.
- Published in:
- 2017
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- Publication type:
- journal article
Plasma endothelin-1 and single nucleotide polymorphisms of endothelin-1 and endothelin type A receptor genes as risk factors for normal tension glaucoma.
- Published in:
- Molecular Vision, 2016, v. 22, p. 1
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- Publication type:
- Article
Insights into the Genetic Structure and Diversity of 38 South Asian Indians from Deep Whole-Genome Sequencing.
- Published in:
- PLoS Genetics, 2014, v. 10, n. 5, p. 1, doi. 10.1371/journal.pgen.1004377
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- Publication type:
- Article
<i>ABCC5</i>, a Gene That Influences the Anterior Chamber Depth, Is Associated with Primary Angle Closure Glaucoma.
- Published in:
- PLoS Genetics, 2014, v. 10, n. 3, p. 1, doi. 10.1371/journal.pgen.1004089
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- Publication type:
- Article
Loci for human leukocyte telomere length in the Singaporean Chinese population and trans-ethnic genetic studies.
- Published in:
- Nature Communications, 2019, v. 10, n. 1, p. N.PAG, doi. 10.1038/s41467-019-10443-2
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- Publication type:
- Article
Interaction Between Peroxisome Proliferator Activated Receptor δ and Epithelial Membrane Protein 2 Polymorphisms Influences HDL-C Levels in the Chinese Population.
- Published in:
- Annals of Human Genetics, 2016, v. 80, n. 5, p. 282, doi. 10.1111/ahg.12164
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- Publication type:
- Article
A Balanced Translocation in Kallmann Syndrome Implicates a Long Noncoding RNA, RMST, as a GnRH Neuronal Regulator.
- Published in:
- 2019
- By:
- Publication type:
- journal article
An Evaluation of DNA Methyltransferase 1 (DNMT1) Single Nucleotide Polymorphisms and Chemotherapy-Associated Cognitive Impairment: A Prospective, Longitudinal Study.
- Published in:
- Scientific Reports, 2019, v. 9, n. 1, p. N.PAG, doi. 10.1038/s41598-019-51203-y
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- Publication type:
- Article
A Novel Splice-Site Mutation in ALS2 Establishes the Diagnosis of Juvenile Amyotrophic Lateral Sclerosis in a Family with Early Onset Anarthria and Generalized Dystonias.
- Published in:
- PLoS ONE, 2014, v. 9, n. 12, p. 1, doi. 10.1371/journal.pone.0113258
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- Publication type:
- Article