Monday, June 25, 2018

Journal of Human Genetics - Table of Contents alert Volume 63 Issue 7

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Journal of Human Genetics

Volume 63, Issue 7

In this issue
Review Article
Brief Communication
Also new

Review Article

Molecular epidemiology of lung cancer in Iran: implications for drug development and cancer prevention

Zahra Fathi, Nicholas L. Syn, Jian-Guo Zhou & Raheleh Roudi

Journal of Human Genetics 2018 63 :783 - 794; April 18, 2018; 10.1038/s10038-018-0450-y


Abstract | Full Text


An estimation of the prevalence of genomic disorders using chromosomal microarray data

Madelyn A. Gillentine, Philip J. Lupo, Pawel Stankiewicz & Christian P. Schaaf

Journal of Human Genetics 2018 63 :795 - 801; April 24, 2018; 10.1038/s10038-018-0451-x


Abstract | Full Text

Genome-wide uniparental diploidy of all paternal chromosomes in an 11-year-old girl with deafness and without malignancy

Irena Borgulová, Inna Soldatova, Martina Putzová, Marcela Malíková, Jana Neupauerová et al.

Journal of Human Genetics 2018 63 :803 - 810; April 10, 2018; 10.1038/s10038-018-0444-9


Abstract | Full Text

Osteogenesis imperfecta with ectopic mineralizations in dentin and cementum and a COL1A2 mutation

Piranit Nik Kantaputra, Yuddhasert Sirirungruangsarn, Worrachet Intachai, Chumpol Ngamphiw, Sissades Tongsima et al.

Journal of Human Genetics 2018 63 :811 - 820; April 10, 2018; 10.1038/s10038-018-0448-5


Abstract | Full Text

No novel, high penetrant gene might remain to be found in Japanese patients with unknown MODY

Yukio Horikawa, Kazuyoshi Hosomichi, Mayumi Enya, Hiroyuki Ishiura, Yutaka Suzuki et al.

Journal of Human Genetics 2018 63 :821 - 829; April 18, 2018; 10.1038/s10038-018-0449-4


Abstract | Full Text

Genetic variants in chemokine CC subfamily genes influence hepatitis C virus viral clearance

Yinan Yao, Ming Yue, Feng Zang, Mei Liu, Haozhi Fan et al.

Journal of Human Genetics 2018 63 :831 - 839; April 27, 2018; 10.1038/s10038-018-0452-9


Abstract | Full Text

Brief Communication

An adolescence-onset male leukoencephalopathy with remarkable cerebellar atrophy and novel compound heterozygous AARS2 gene mutations: a case report

Qing Dong, Ling Long, Yan-yu Chang, Yan-jun Lin, Mei Liu et al.

Journal of Human Genetics 2018 63 :841 - 846; April 17, 2018; 10.1038/s10038-018-0446-7


Abstract | Full Text

Novel NEXMIF pathogenic variant in a boy with severe autistic features, intellectual disability, and epilepsy, and his mildly affected mother

Nelle Lambert, Corinne Dauve, Emmanuelle Ranza, Periklis Makrythanasis, Federico Santoni et al.

Journal of Human Genetics 2018 63 :847 - 850; May 01, 2018; 10.1038/s10038-018-0459-2


Abstract | Full Text

Truncating mutations of HIBCH tend to cause severe phenotypes in cases with HIBCH deficiency: a case report and brief literature review

Hu Tan, Xin Chen, Weigang Lv, Siyuan Linpeng, Desheng Liang et al.

Journal of Human Genetics 2018 63 :851 - 855; April 27, 2018; 10.1038/s10038-018-0461-8


Abstract | Full Text


Author Correction: Two large deletions extending beyond either end of the RHD gene and their red cell phenotypes

Kshitij Srivastava, David Alan Stiles, Franz Friedrich Wagner & Willy Albert Flegel

Journal of Human Genetics 2018 63 :857 - 857; May 01, 2018; 10.1038/s10038-018-0460-9


Abstract | Full Text

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