Works matching IS 14345161 AND DT 2014 AND VI 59 AND IP 3
Results: 10
A shared haplotype for dentatorubropallidoluysian atrophy (DRPLA) in Italian families testifies of the recent introduction of the mutation.
- Published in:
- Journal of Human Genetics, 2014, v. 59, n. 3, p. 153, doi. 10.1038/jhg.2013.137
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- Article
A commentary on the promise of whole-exome sequencing in medical genetics.
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- Journal of Human Genetics, 2014, v. 59, n. 3, p. 117, doi. 10.1038/jhg.2014.7
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- Article
Truncated UDP-glucuronosyltransferase (UGT) from a Crigler-Najjar syndrome type II patient colocalizes with intact UGT in the endoplasmic reticulum.
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- Journal of Human Genetics, 2014, v. 59, n. 3, p. 158, doi. 10.1038/jhg.2013.138
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- Article
Mitochondrial haplotypes may modulate the phenotypic manifestation of the LHON-associated ND1 G3460A mutation in Chinese families.
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- Journal of Human Genetics, 2014, v. 59, n. 3, p. 134, doi. 10.1038/jhg.2013.134
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- Article
Molecular basis of transfusion dependent beta-thalassemia major patients in Sabah.
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- Journal of Human Genetics, 2014, v. 59, n. 3, p. 119, doi. 10.1038/jhg.2013.131
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- Article
Association of miR-146a gene polymorphism with risk of nasopharyngeal carcinoma in the central-southern Chinese population.
- Published in:
- Journal of Human Genetics, 2014, v. 59, n. 3, p. 141, doi. 10.1038/jhg.2013.135
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- Article
Clinical and genetic analysis of the first known Asian family with myotonic dystrophy type 2.
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- Journal of Human Genetics, 2014, v. 59, n. 3, p. 129, doi. 10.1038/jhg.2013.133
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- Article
The mutation spectrum of the phenylalanine hydroxylase (PAH) gene and associated haplotypes reveal ethnic heterogeneity in the Taiwanese population.
- Published in:
- Journal of Human Genetics, 2014, v. 59, n. 3, p. 145, doi. 10.1038/jhg.2013.136
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- Article
Molecular epidemiology and clinical spectrum of hereditary spastic paraplegia in the Japanese population based on comprehensive mutational analyses.
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- Journal of Human Genetics, 2014, v. 59, n. 3, p. 163, doi. 10.1038/jhg.2013.139
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- Article
Concurrent MCL1 and JUN amplification in pseudomyxoma peritonei: a comprehensive genetic profiling and survival analysis.
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- Journal of Human Genetics, 2014, v. 59, n. 3, p. 124, doi. 10.1038/jhg.2013.132
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- Article