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For want of a disc, the cell was lost….
- Published in:
- Nature Medicine, 2000, v. 6, n. 5, p. 508, doi. 10.1038/74985
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- Article
Maternal histidine metabolism and its effect on foetal development in the mouse.
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- Nature, 1977, v. 265, n. 5591, p. 262, doi. 10.1038/265262a0
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- Publication type:
- Article
Exome Sequencing to Detect Rare Variants Associated With General Cognitive Ability: A Pilot Study.
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- Twin Research & Human Genetics, 2015, v. 18, n. 2, p. 117, doi. 10.1017/thg.2015.10
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- Publication type:
- Article
A 'complexity' of urate transporters.
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- 2010
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- Publication type:
- journal article
A ‘complexity’ of urate transporters.
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- Kidney International, 2010, v. 78, n. 5, p. 446, doi. 10.1038/ki.2010.206
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- Publication type:
- Article
Genome-wide linkage analysis of serum creatinine in three isolated European populations.
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- Kidney International, 2009, v. 76, n. 3, p. 297, doi. 10.1038/ki.2009.135
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- Publication type:
- Article
Defining the role of common variation in the genomic and biological architecture of adult human height.
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- Nature Genetics, 2014, v. 46, n. 11, p. 1173, doi. 10.1038/ng.3097
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- Publication type:
- Article
A rare variant in CFH directly links age-related macular degeneration with rare glomerular nephropathies.
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- Nature Genetics, 2011, v. 43, n. 12, p. 1176, doi. 10.1038/ng.1012
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- Publication type:
- Article
Contribution of consanguinuity to polygenic and multifactorial diseases.
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- 2006
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- Publication type:
- Letter
Lifespan and mitochondrial control of neurodegeneration.
- Published in:
- Nature Genetics, 2004, v. 36, n. 11, p. 1153, doi. 10.1038/ng1448
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- Publication type:
- Article
Identification of the gene that, when mutated, causes the human obesity syndrome BBS4.
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- Nature Genetics, 2001, v. 28, n. 2, p. 188, doi. 10.1038/88925
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- Publication type:
- Article
Mutational hot spot within a new RPGR exon in X-linked retinitis pigmentosa.
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- Nature Genetics, 2000, v. 25, n. 4, p. 462, doi. 10.1038/78182
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- Publication type:
- Article
Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate.
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- Nature Genetics, 2000, v. 24, n. 2, p. 127, doi. 10.1038/72777
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- Publication type:
- Article
Population choice in mapping genes for complex diseases.
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- Nature Genetics, 1999, v. 23, n. 4, p. 397, doi. 10.1038/70501
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- Publication type:
- Article
Local Exome Sequences Facilitate Imputation of Less Common Variants and Increase Power of Genome Wide Association Studies.
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- PLoS ONE, 2013, v. 8, n. 7, p. 1, doi. 10.1371/journal.pone.0068604
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- Publication type:
- Article
Localising Loci underlying Complex Trait Variation Using Regional Genomic Relationship Mapping.
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- PLoS ONE, 2012, v. 7, n. 10, p. 1, doi. 10.1371/journal.pone.0046501
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- Publication type:
- Article
The Association of Dietary Intake of Purine-Rich Vegetables, Sugar-Sweetened Beverages and Dairy with Plasma Urate, in a Cross-Sectional Study.
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- PLoS ONE, 2012, v. 7, n. 6, p. 1, doi. 10.1371/journal.pone.0038123
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- Publication type:
- Article
Characterisation of a C1qtnf5 Ser163Arg Knock-In Mouse Model of Late-Onset Retinal Macular Degeneration.
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- PLoS ONE, 2011, v. 6, n. 11, p. 1, doi. 10.1371/journal.pone.0027433
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- Publication type:
- Article
Characterisation of Genome-Wide Association Epistasis Signals for Serum Uric Acid in Human Population Isolates.
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- PLoS ONE, 2011, v. 6, n. 8, p. 1, doi. 10.1371/journal.pone.0023836
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- Publication type:
- Article
Copy Number Variation across European Populations.
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- PLoS ONE, 2011, v. 6, n. 8, p. 1, doi. 10.1371/journal.pone.0023087
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- Publication type:
- Article
Mortality in women with turner syndrome in Great Britain: a national cohort study.
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- 2008
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- Publication type:
- journal article
Mortality in Patients with Klinefelter Syndrome in Britain: A Cohort Study.
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- Journal of Clinical Endocrinology & Metabolism, 2005, v. 90, n. 12, p. 6516, doi. 10.1210/jc.2005-1077
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- Publication type:
- Article
Linking protein to phenotype with Mendelian Randomization detects 38 proteins with causal roles in human diseases and traits.
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- PLoS Genetics, 2020, v. 16, n. 7, p. 1, doi. 10.1371/journal.pgen.1008785
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- Publication type:
- Article
Photoreceptor degeneration: genetic and mechanistic dissection of a complex trait.
- Published in:
- 2010
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- Publication type:
- journal article
Mortality risks in patients with constitutional autosomal chromosome deletions in Britain: a cohort study.
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- Human Genetics, 2008, v. 123, n. 2, p. 215, doi. 10.1007/s00439-008-0465-0
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- Publication type:
- Article
Mortality and cancer incidence in women with extra X chromosomes: a cohort study in Britain.
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- Human Genetics, 2005, v. 118, n. 2, p. 255, doi. 10.1007/s00439-005-0043-7
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- Publication type:
- Article
Cancer Incidence and Mortality in Men with Klinefelter Syndrome: A Cohort Study.
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- JNCI: Journal of the National Cancer Institute, 2005, v. 97, n. 16, p. 1204, doi. 10.1093/jnci/dji240
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- Publication type:
- Article
Inference of identity by descent in population isolates and optimal sequencing studies.
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- European Journal of Human Genetics, 2013, v. 21, n. 10, p. 1140, doi. 10.1038/ejhg.2012.307
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- Publication type:
- Article
Genome-wide analysis of epistasis in body mass index using multiple human populations.
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- European Journal of Human Genetics, 2012, v. 20, n. 8, p. 857, doi. 10.1038/ejhg.2012.17
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- Publication type:
- Article
No evidence of association between complement factor I genetic variant rs10033900 and age-related macular degeneration.
- Published in:
- 2012
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- Publication type:
- Letter
Genes predict village of origin in rural Europe.
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- European Journal of Human Genetics, 2010, v. 18, n. 11, p. 1269, doi. 10.1038/ejhg.2010.92
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- Publication type:
- Article
Renal, cardiovascular and hormonal characteristics of young adults with autosomal dominant polycystic kidney disease.
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- Kidney International, 1991, v. 40, n. 3, p. 501, doi. 10.1038/ki.1991.238
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- Publication type:
- Article
Individual multi-locus heterozygosity is associated with lower morning plasma cortisol concentrations.
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- European Journal of Endocrinology, 2013, v. 169, n. 1, p. 59, doi. 10.1530/EJE-12-0916
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- Publication type:
- Article
A Quantitative Trait Locus for SBP Maps Near KCNB1 and PTGIS in a Population Isolate.
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- American Journal of Hypertension, 2009, v. 22, n. 6, p. 663, doi. 10.1038/ajh.2009.46
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- Publication type:
- Article
Late-Onset Retinal Degeneration Caused by C1QTNF5 Mutation: Sub-Retinal Pigment Epithelium Deposits and Visual Consequences.
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- JAMA Ophthalmology, 2014, v. 132, n. 10, p. 1252, doi. 10.1001/jamaophthalmol.2014.2059
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- Publication type:
- Article
The TCF7L2 Diabetes Risk Variant is Associated with HbA<sub>1C</sub> Levels: a Genome-Wide Association Meta-Analysis.
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- Annals of Human Genetics, 2010, v. 74, n. 6, p. 471, doi. 10.1111/j.1469-1809.2010.00607.x
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- Publication type:
- Article
Mortality and Cancer Incidence in Carriers of Balanced Robertsonian Translocations: A National Cohort Study.
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- American Journal of Epidemiology, 2019, v. 188, n. 3, p. 500, doi. 10.1093/aje/kwy266
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- Publication type:
- Article
A genetic association analysis of cognitive ability and cognitive ageing using 325 markers for 109 genes associated with oxidative stress or cognition.
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- BMC Genetics, 2007, v. 8, p. 43, doi. 10.1186/1471-2156-8-43
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- Article
Strategy for Mapping Quantitative Trait Loci (QTL) by Using Human Metapopulations.
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- Croatian Medical Journal, 2006, v. 47, n. 4, p. 532
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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
Cognitive change and the APOE ε4 allele.
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- Nature, 2002, v. 418, n. 6901, p. 932, doi. 10.1038/418932a
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- Publication type:
- Article
Short cut to disease genes.
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- Nature, 2001, v. 414, n. 6865, p. 705, doi. 10.1038/414705a
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- Publication type:
- Article
Variegated yet non-random rod and cone photoreceptor disease patterns in RPGR-ORF15-associated retinal degeneration.
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- Human Molecular Genetics, 2019, v. 28, n. 1, p. 175, doi. 10.1093/hmg/ddy342
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- Publication type:
- Article
Variegated yet non-random rod and cone photoreceptor disease patterns in RPGR-ORF15-associated retinal degeneration.
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- Human Molecular Genetics, 2016, v. 25, n. 24, p. 5444, doi. 10.1093/hmg/ddw361
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- Publication type:
- Article
Homozygous loss-of-function variants in European cosmopolitan and isolate populations.
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- Human Molecular Genetics, 2015, v. 24, n. 19, p. 5464, doi. 10.1093/hmg/ddv272
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- Publication type:
- Article
Genomic prediction of complex human traits: relatedness, trait architecture and predictive meta-models.
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- Human Molecular Genetics, 2015, v. 24, n. 14, p. 4167, doi. 10.1093/hmg/ddv145
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- Publication type:
- Article
Enrichment of pathogenic alleles in the brittle cornea gene, ZNF469, in keratoconus.
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- Human Molecular Genetics, 2014, v. 23, n. 20, p. 5527, doi. 10.1093/hmg/ddu253
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- Publication type:
- Article
Genome-wide association study identifies genetic risk underlying primary rhegmatogenous retinal detachment.
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- Human Molecular Genetics, 2013, v. 22, n. 15, p. 3174, doi. 10.1093/hmg/ddt169
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- Publication type:
- Article
ATR localizes to the photoreceptor connecting cilium and deficiency leads to severe photoreceptor degeneration in mice.
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- Human Molecular Genetics, 2013, v. 22, n. 8, p. 1507
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- Publication type:
- Article
The role of RPGR in cilia formation and actin stability.
- Published in:
- Human Molecular Genetics, 2011, v. 20, n. 24, p. 4840, doi. 10.1093/hmg/ddr423
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- Publication type:
- Article