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Farewell: retirement as Editor-in-Chief of the Journal of Human Genetics and launching Human Genome Variation.
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- Journal of Human Genetics, 2014, v. 59, n. 1, p. 2, doi. 10.1038/jhg.2013.126
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Correlation of PLS3 expression with disease severity in children with spinal muscular atrophy.
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- Journal of Human Genetics, 2014, v. 59, n. 1, p. 24, doi. 10.1038/jhg.2013.111
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Mitochondrial DNA history of Sri Lankan ethnic people: their relations within the island and with the Indian subcontinental populations.
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- Journal of Human Genetics, 2014, v. 59, n. 1, p. 28, doi. 10.1038/jhg.2013.112
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- Article
Hereditary hemorrhagic telangiectasia in Japanese patients.
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- Journal of Human Genetics, 2014, v. 59, n. 1, p. 37, doi. 10.1038/jhg.2013.113
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Genetic risk transmission in a family affected by familial breast cancer.
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- Journal of Human Genetics, 2014, v. 59, n. 1, p. 51, doi. 10.1038/jhg.2013.109
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A mutation analysis of the AGL gene in Korean patients with glycogen storage disease type III.
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- Journal of Human Genetics, 2014, v. 59, n. 1, p. 42, doi. 10.1038/jhg.2013.117
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Differences in carrier frequency between mothers of Duchenne and Becker muscular dystrophy patients.
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- Journal of Human Genetics, 2014, v. 59, n. 1, p. 46, doi. 10.1038/jhg.2013.119
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- Article
A new mutation in the C-SH2 domain of PTPN11 causes Noonan syndrome with multiple giant cell lesions.
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- Journal of Human Genetics, 2014, v. 59, n. 1, p. 57, doi. 10.1038/jhg.2013.118
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Genetic association study between the detected risk variants based upon type II diabetes GWAS and psychotic disorders in the Japanese population.
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- Journal of Human Genetics, 2014, v. 59, n. 1, p. 54, doi. 10.1038/jhg.2013.116
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The promise of whole-exome sequencing in medical genetics.
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- Journal of Human Genetics, 2014, v. 59, n. 1, p. 5, doi. 10.1038/jhg.2013.114
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A message from the new Editor-in-Chief.
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- Journal of Human Genetics, 2014, v. 59, n. 1, p. 1, doi. 10.1038/jhg.2013.127
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- Article
Exploring the pathophysiology behind the more common genetic and acquired lipodystrophies.
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- Journal of Human Genetics, 2014, v. 59, n. 1, p. 16, doi. 10.1038/jhg.2013.107
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- Article