CAPN3 mRNA processing alteration caused by splicing mutation associated with novel genomic rearrangement of Alu elements.
- Published in:
- Journal of Human Genetics, 2012, v. 57, n. 2, p. 92, doi. 10.1038/jhg.2011.129
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- Publication type:
- Article
Works matching IS 14345161 AND DT 2012 AND VI 57 AND IP 2
Results: 12
1
2
Genomic imprinting and its relevance to congenital disease, infertility, molar pregnancy and induced pluripotent stem cell.
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- Journal of Human Genetics, 2012, v. 57, n. 2, p. 84, doi. 10.1038/jhg.2011.151
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- Article
3
Genome-wide linkage analysis in families with infantile hypertrophic pyloric stenosis indicates novel susceptibility loci.
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- Journal of Human Genetics, 2012, v. 57, n. 2, p. 115, doi. 10.1038/jhg.2011.137
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- Article
4
Estimation of carrier frequencies of six autosomal-recessive Mendelian disorders in the Korean population.
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- Journal of Human Genetics, 2012, v. 57, n. 2, p. 139, doi. 10.1038/jhg.2011.144
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- Article
5
Hypomethylation of the KCNQ1OT1 imprinting center of chromosome 11 associated to Sotos-like features.
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- Journal of Human Genetics, 2012, v. 57, n. 2, p. 153, doi. 10.1038/jhg.2011.145
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- Article
6
Phenotype-phenotype and genotype-phenotype correlations in patients with idiopathic superior oblique muscle palsy.
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- Journal of Human Genetics, 2012, v. 57, n. 2, p. 122, doi. 10.1038/jhg.2011.138
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- Publication type:
- Article
7
Association of adiponectin polymorphism with cord blood adiponectin concentrations and intrauterine growth.
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- Journal of Human Genetics, 2012, v. 57, n. 2, p. 109, doi. 10.1038/jhg.2011.134
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- Article
8
A commentary on Implication of gene copy number variation in health and diseases.
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- Journal of Human Genetics, 2012, v. 57, n. 2, p. 79, doi. 10.1038/jhg.2011.140
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- Article
9
Regions of homozygosity in three Southeast Asian populations.
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- Journal of Human Genetics, 2012, v. 57, n. 2, p. 101, doi. 10.1038/jhg.2011.132
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- Article
10
Mechanism of complex gross chromosomal rearrangements: A commentary on Concomitant microduplications of MECP2 and ATRX in male patients with severe mental retardation.
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- Journal of Human Genetics, 2012, v. 57, n. 2, p. 81, doi. 10.1038/jhg.2011.143
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- Article
11
Mutation spectrum of and founder effects affecting the PTS gene in East Asian populations.
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- Journal of Human Genetics, 2012, v. 57, n. 2, p. 145, doi. 10.1038/jhg.2011.146
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- Publication type:
- Article
12
Multimodel assessment of BRCA1 mutations in Taiwanese (ethnic Chinese) women with early-onset, bilateral or familial breast cancer.
- Published in:
- Journal of Human Genetics, 2012, v. 57, n. 2, p. 130, doi. 10.1038/jhg.2011.142
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- Article