Journal of human genetics

• Material Type: 雑誌
• ISSN: 1434-5161
• Title: Journal of human genetics
• Volume: 58(7)-58(12):2013.7-2013.12
• Author/Editor: Japan Society of Human Genetics
• Author Heading: 日本人類遺伝学会 ニホン ジンルイ イデン ガッカイ ( 00295119 )Authorities; シュプリンガージャパン株式会社 シュプリンガー ジャパン カブシキ ガイシャ ( 01067702 )Authorities; シュプリンガーフェアラーク東京株式会社 シュプリンガー フェアラーク トウキョウ カブシキ ガイシャ ( 01006083 )Authorities
• Publication, Distribution, etc.: Tokyo : Springer Nature
• Publication Date: 2013
• Publication Date (W3CDTF): 2013
• Year and volume of publication: v. 43, no. 1 (1998)-
• Size: 28cm
• Place of Publication (Country Code): JP
• Text Language Code: eng
• NDLC: ZS16
• Note (General): Description based on the latest issue; Publisher: Springer-Verlag Tokyo (v. 43, no. 1-v. 51, no. 7) ; Springer Japan (v. 51, no. 8-<v. 53, no. 11/12>) ; Nature Publishing Group (<v. 54, no. 2>-v. 61, no. 7); With suppl
• Holding library: 国立国会図書館
• Call No.: Z54-H248
• Related Material: 区分換; https://ndlsearch.ndl.go.jp/books/R100000002-I028083539
• Replaces: 継続前; https://ndlsearch.ndl.go.jp/books/R100000002-I000000152079
• Data Provider (Database): 国立国会図書館 : 国立国会図書館蔵書; https://ndlsearch.ndl.go.jp
• Bibliographic ID (NDL): 000000159110; http://id.ndl.go.jp/bib/000000159110
• National Bibliography No. (JPNO): 10053592
• Cataloging Rule: Nippon Cataloguing Rules 1987 Revised Edition
• Bibliographic Record Category (NDL): 132

Table of Contents

Clinical features and management of organic acidemias in Japan

Endothelial nitric oxide synthase gene polymorphism is associated with sickle cell disease patients in India

Comprehensive analysis of common and rare mitochondrial DNA variants in elite Japanese athletes : a case-control study

Three novel mutations in the carnitine-acylcarnitine translocase (CACT) gene in patients with CACT deficiency and in healthy individuals

Polymorphisms in the UGT1A1 gene predict adverse effects of irinotecan in the treatment of gynecologic cancer in Japanese patients

Single-nucleotide polymorphisms in Toll-like receptor (TLR)-2, TLR4 and heat shock protein 70 genes and susceptibility to scrub typhus

YY1 binds to α-synuclein 3'-flanking region SNP and stimulates antisense noncoding RNA expression

Novel PKD1 and PKD2 mutations in Taiwanese patients with autosomal dominant polycystic kidney disease

High-dose enzyme replacement therapy attenuates cerebroventriculomegaly in a mouse model of mucopolysaccharidosis type Ⅱ

Systematic evaluation of personal genome services for Japanese individuals

WFS1 variants in Finnish patients with diabetes mellitus, sensorineural hearing impairment or optic atrophy, and in suicide victims

Serbian high-risk families : extensive results on BRCA mutation spectra and frequency

Epithelial-mesenchymal transition-related microRNA-200s regulate molecular targets and pathways in renal cell carcinoma

A nonsynonymous variant of IL1A is associated with endometriosis in Japanese population

Identification of KCNN2 as a susceptibility locus for coronary artery aneurysms in Kawasaki disease using genome-wide association analysis

The SCN1A gene variants and epileptic encephalopathies

A large cohort of myotonia congenita probands : novel mutations and a high-frequency mutation region in exons 4 and 5 of the CLCN1 gene

A replication study for three nephrolithiasis loci at 5q35.3, 7p14.3 and 13q14.1 in the Japanese population

A common and two novel GBA mutations in Thai patients with Gaucher disease

Identification of functional nucleotide and haplotype variants in the promoter of the CEBPE gene

Pairomics, the omics way to mate choice

Correcting for differential genotyping error in genetic association analysis

Genome-wide association study of the five-factor model of personality in young Korean women

Galactosemia in the Turkish population with a high frequency of Q188R mutation and distribution of Duarte-1 and Duarte-2 variations

Association of XRCC3 and XRCC4 gene polymorphisms, family history of cancer and tobacco smoking with non-small-cell lung cancer in a Chinese population : a case-control study

Epigenomic strategies at the interface of genetic and environmental risk factors for autism (Special Section on Epigenomics : biological understanding and clinical application)

Epigenetic and genetic alterations of the imprinting disorder Beckwith-Wiedemann syndrome and related disorders (Special Section on Epigenomics : biological understanding and clinical application)

Metabolism-epigenome crosstalk in physiology and diseases (Special Section on Epigenomics : biological understanding and clinical application)

Effects of embryonic manipulation and epigenetics (Special Section on Epigenomics : biological understanding and clinical application)

Tet family of 5-methylcytosine dioxygenases in mammalian development (Special Section on Epigenomics : biological understanding and clinical application)