Found: 14
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WFS1 variants in Finnish patients with diabetes mellitus, sensorineural hearing impairment or optic atrophy, and in suicide victims.
- Published in:
- Journal of Human Genetics, 2013, v. 58, n. 8, p. 495, doi. 10.1038/jhg.2013.29
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- Article
Serbian high-risk families: extensive results on BRCA mutation spectra and frequency.
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- Journal of Human Genetics, 2013, v. 58, n. 8, p. 501, doi. 10.1038/jhg.2013.30
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- Article
Epithelial-mesenchymal transition-related microRNA-200s regulate molecular targets and pathways in renal cell carcinoma.
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- Journal of Human Genetics, 2013, v. 58, n. 8, p. 508, doi. 10.1038/jhg.2013.31
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- Article
A nonsynonymous variant of IL1A is associated with endometriosis in Japanese population.
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- Journal of Human Genetics, 2013, v. 58, n. 8, p. 517, doi. 10.1038/jhg.2013.32
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- Article
Identification of KCNN2 as a susceptibility locus for coronary artery aneurysms in Kawasaki disease using genome-wide association analysis.
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- Journal of Human Genetics, 2013, v. 58, n. 8, p. 521, doi. 10.1038/jhg.2013.43
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- Article
The novel mutation p.Asp251Asn in the β-subunit of succinate-CoA ligase causes encephalomyopathy and elevated succinylcarnitine.
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- Journal of Human Genetics, 2013, v. 58, n. 8, p. 526, doi. 10.1038/jhg.2013.45
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- Article
Analysis of genetic variants of dyslexia candidate genes KIAA0319 and DCDC2 in Indian population.
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- Journal of Human Genetics, 2013, v. 58, n. 8, p. 531, doi. 10.1038/jhg.2013.46
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- Article
Family-based genome-wide copy number scan identifies five new genes of dyslexia involved in dendritic spinal plasticity.
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- Journal of Human Genetics, 2013, v. 58, n. 8, p. 539, doi. 10.1038/jhg.2013.47
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- Article
Newborn screening for Fabry disease in Japan: prevalence and genotypes of Fabry disease in a pilot study.
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- Journal of Human Genetics, 2013, v. 58, n. 8, p. 548, doi. 10.1038/jhg.2013.48
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- Article
Transmission of an FMR1 premutation allele in a large family identified through newborn screening: the role of AGG interruptions.
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- Journal of Human Genetics, 2013, v. 58, n. 8, p. 553, doi. 10.1038/jhg.2013.50
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- Article
Follow-up nationwide survey on predictive genetic testing for late-onset hereditary neurological diseases in Japan.
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- Journal of Human Genetics, 2013, v. 58, n. 8, p. 560, doi. 10.1038/jhg.2013.34
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- Article
Exome sequencing as a diagnostic tool to identify a causal mutation in genetically highly heterogeneous limb-girdle muscular dystrophy.
- Published in:
- Journal of Human Genetics, 2013, v. 58, n. 8, p. 564, doi. 10.1038/jhg.2013.33
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- Article
Autosomal recessive gingival hyperplasia and dental anomalies caused by a 29-base pair duplication in the FAM20A gene.
- Published in:
- Journal of Human Genetics, 2013, v. 58, n. 8, p. 566, doi. 10.1038/jhg.2013.44
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- Article
Further evidence of an association between a genetic variant in BMP7 and treatment response to SSRIs in major depressive disorder.
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- Journal of Human Genetics, 2013, v. 58, n. 8, p. 568, doi. 10.1038/jhg.2013.52
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- Article