journal of human genetics سال:2016 - دوره:61

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journal of human genetics
سال:2016 - دوره:61 - شماره:7

A commentary on evaluation of the evenness score in next-generation sequencing - صفحه:575-575 Accredited genetic testing in the Arab Gulf region: reinventing the wheel - صفحه:673-674 Clinical manifestations and growth of patients with urea cycle disorders in Japan - صفحه:613-616 Deletion of exons 3−9 encompassing a mutational hot spot in the DMD gene presents an asymptomatic phenotype, indicating a target region for multiexon skipping therapy - صفحه:663-667 Erratum: New native South American Y chromosome lineages - صفحه:675-675 Evaluation of the evenness score in next-generation sequencing - صفحه:627-632 Exome sequencing reveals two novel compound heterozygous XYLT1 mutations in a Polish patient with Desbuquois dysplasia type 2 and growth hormone deficiency - صفحه:577-583 Fetal cell-free DNA fraction in maternal plasma is affected by fetal trisomy - صفحه:647-652 Inheritance of the Bantu/Benin haplotype causes less severe hemolytic and oxidative stress in sickle cell anemia patients treated with hydroxycarbamide - صفحه:605-611 IntSplice: prediction of the splicing consequences of intronic single-nucleotide variations in the human genome - صفحه:633-640 MECP2 mutations in Czech patients with Rett syndrome and Rett-like phenotypes: novel mutations, genotype–phenotype correlations and validation of high-resolution melting analysis for mutation scanning - صفحه:617-625 New native South American Y chromosome lineages - صفحه:593-603 Nineteen-year follow-up of a patient with severe glutathione synthetase deficiency - صفحه:669-672 Spectrum of AGL mutations in Chinese patients with glycogen storage disease type III: identification of 31 novel mutations - صفحه:641-645 Systematic molecular analyses of SHOX in Japanese patients with idiopathic short stature and Leri–Weill dyschondrosteosis - صفحه:585-591 WDR45 mutations in three male patients with West syndrome - صفحه:653-661