Found: 21
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Sequence variant at 8q24.21 associates with sciatica caused by lumbar disc herniation.
- Published in:
- Nature Communications, 2017, v. 8, n. 2, p. 14265, doi. 10.1038/ncomms14265
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- Publication type:
- Article
Epigenetic and genetic components of height regulation.
- Published in:
- Nature Communications, 2016, v. 7, n. 11, p. 13490, doi. 10.1038/ncomms13490
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- Publication type:
- Article
Common and rare variants associating with serum levels of creatine kinase and lactate dehydrogenase.
- Published in:
- Nature Communications, 2016, v. 7, n. 2, p. 10572, doi. 10.1038/ncomms10572
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- Publication type:
- Article
COPA syndrome in an Icelandic family caused by a recurrent missense mutation in COPA.
- Published in:
- 2017
- By:
- Publication type:
- Case Study
Compound heterozygous mutations in UBA5 causing early-onset epileptic encephalopathy in two sisters.
- Published in:
- 2017
- By:
- Publication type:
- Case Study
A truncating mutation in EPOR leads to hypo-responsiveness to erythropoietin with normal haemoglobin.
- Published in:
- Communications Biology, 2018, v. 1, n. 1, p. N.PAG, doi. 10.1038/s42003-018-0053-3
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- Publication type:
- Article
A rare missense variant in NR1H4 associates with lower cholesterol levels.
- Published in:
- Communications Biology, 2018, v. 1, n. 1, p. N.PAG, doi. 10.1038/s42003-018-0015-9
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- Publication type:
- Article
GWAS of bone size yields twelve loci that also affect height, BMD, osteoarthritis or fractures.
- Published in:
- Nature Communications, 2019, v. 10, n. 1, p. N.PAG, doi. 10.1038/s41467-019-09860-0
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- Publication type:
- Article
A PRPH splice-donor variant associates with reduced sural nerve amplitude and risk of peripheral neuropathy.
- Published in:
- Nature Communications, 2019, v. 10, n. 1, p. N.PAG, doi. 10.1038/s41467-019-09719-4
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- Publication type:
- Article
Sequence variation at ANAPC1 accounts for 24% of the variability in corneal endothelial cell density.
- Published in:
- Nature Communications, 2019, v. 10, n. 1, p. 1, doi. 10.1038/s41467-019-09304-9
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- Publication type:
- Article
Genome-wide association meta-analysis yields 20 loci associated with gallstone disease.
- Published in:
- Nature Communications, 2018, v. 9, n. 1, p. 1, doi. 10.1038/s41467-018-07460-y
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- Publication type:
- Article
A homozygous loss-of-function mutation leading to CYBC1 deficiency causes chronic granulomatous disease.
- Published in:
- Nature Communications, 2018, v. 9, p. 1, doi. 10.1038/s41467-018-06964-x
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- Publication type:
- Article
The genetic architecture of age-related hearing impairment revealed by genome-wide association analysis.
- Published in:
- Communications Biology, 2021, v. 4, n. 1, p. 1, doi. 10.1038/s42003-021-02224-9
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- Publication type:
- Article
Predicted loss and gain of function mutations in ACO1 are associated with erythropoiesis.
- Published in:
- Communications Biology, 2020, v. 3, n. 1, p. 1, doi. 10.1038/s42003-020-0921-5
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- Publication type:
- Article
Eighty-eight variants highlight the role of T cell regulation and airway remodeling in asthma pathogenesis.
- Published in:
- Nature Communications, 2020, v. 11, n. 1, p. 1, doi. 10.1038/s41467-019-14144-8
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- Publication type:
- Article
Sequence variants associating with urinary biomarkers.
- Published in:
- Human Molecular Genetics, 2019, v. 28, n. 7, p. 1199, doi. 10.1093/hmg/ddy409
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- Publication type:
- Article
Genetic insight into sick sinus syndrome.
- Published in:
- European Heart Journal, 2021, v. 42, n. 20, p. 1959, doi. 10.1093/eurheartj/ehaa1108
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- Publication type:
- Article
Identification of Lynch syndrome risk variants in the Romanian population.
- Published in:
- Journal of Cellular & Molecular Medicine, 2018, v. 22, n. 12, p. 6068, doi. 10.1111/jcmm.13881
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- Publication type:
- Article
Profile of common prostate cancer risk variants in an unscreened Romanian population.
- Published in:
- Journal of Cellular & Molecular Medicine, 2018, v. 22, n. 3, p. 1574, doi. 10.1111/jcmm.13433
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- Publication type:
- Article
Correction: Obesity and risk of female reproductive conditions: A Mendelian randomisation study.
- Published in:
- PLoS Medicine, 2022, v. 19, n. 9, p. 1, doi. 10.1371/journal.pmed.1004095
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- Publication type:
- Article
Obesity and risk of female reproductive conditions: A Mendelian randomisation study.
- Published in:
- 2022
- By:
- Publication type:
- journal article