A stepwise likelihood ratio test procedure for rare variant selection in case-control studies.
- Published in:
- Journal of Human Genetics, 2014, v. 59, n. 4, p. 198, doi. 10.1038/jhg.2014.1
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- Publication type:
- Article
Works matching IS 14345161 AND DT 2014 AND VI 59 AND IP 4
Results: 12
1
2
Novel mutations in the glucocerebrosidase gene of Indian patients with Gaucher disease.
- Published in:
- Journal of Human Genetics, 2014, v. 59, n. 4, p. 223, doi. 10.1038/jhg.2014.5
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- Publication type:
- Article
3
A commentary on concurrent MCL1 and JUN amplification in pseudomyxoma peritonei: a comprehensive genetic profiling and survival analysis.
- Published in:
- Journal of Human Genetics, 2014, v. 59, n. 4, p. 176, doi. 10.1038/jhg.2014.11
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- Publication type:
- Article
4
A commentary on molecular basis of transfusion dependent beta-thalassemia major patients in Sabah.
- Published in:
- Journal of Human Genetics, 2014, v. 59, n. 4, p. 173, doi. 10.1038/jhg.2013.142
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- Publication type:
- Article
5
A novel homozygous YARS2 mutation causes severe myopathy, lactic acidosis, and sideroblastic anemia 2.
- Published in:
- Journal of Human Genetics, 2014, v. 59, n. 4, p. 229, doi. 10.1038/jhg.2013.143
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- Publication type:
- Article
6
p.Arg75Gln, a CFTR variant involved in the risk of CFTR-related disorders?
- Published in:
- Journal of Human Genetics, 2014, v. 59, n. 4, p. 206, doi. 10.1038/jhg.2014.2
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- Publication type:
- Article
7
A commentary on molecular basis of transfusion dependent beta-thalassemia major patients in Sabah.
- Published in:
- Journal of Human Genetics, 2014, v. 59, n. 4, p. 233, doi. 10.1038/jhg.2014.22
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- Publication type:
- Article
8
Founder effect confirmation of c.241A>G mutation in the L2HGDH gene and characterization of oxidative stress parameters in six Tunisian families with L-2-hydroxyglutaric aciduria.
- Published in:
- Journal of Human Genetics, 2014, v. 59, n. 4, p. 216, doi. 10.1038/jhg.2014.4
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- Publication type:
- Article
9
KIAA0319 and ROBO1: evidence on association with reading and pleiotropic effects on language and mathematics abilities in developmental dyslexia.
- Published in:
- Journal of Human Genetics, 2014, v. 59, n. 4, p. 189, doi. 10.1038/jhg.2013.141
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- Publication type:
- Article
10
Types of DNA methylation status of the interspersed repetitive sequences for LINE-1, Alu, HERV-E and HERV-K in the neutrophils from systemic lupus erythematosus patients and healthy controls.
- Published in:
- Journal of Human Genetics, 2014, v. 59, n. 4, p. 178, doi. 10.1038/jhg.2013.140
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- Publication type:
- Article
11
A commentary on types of DNA methylation status of the interspersed repetitive sequences for LINE-1, Alu, HERV-E and HERV-K in the neutrophils from systemic lupus erythematosus patients and healthy controls.
- Published in:
- Journal of Human Genetics, 2014, v. 59, n. 4, p. 174, doi. 10.1038/jhg.2014.8
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- Publication type:
- Article
12
Regulatory genomic regions active in immune cell types explain a large proportion of the genetic risk of multiple sclerosis.
- Published in:
- Journal of Human Genetics, 2014, v. 59, n. 4, p. 211, doi. 10.1038/jhg.2014.3
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- Publication type:
- Article