Journal of human genetics

• 資料種別: 雑誌
• ISSN: 1434-5161
• タイトル: Journal of human genetics
• 巻次・部編番号: 57(1)-57(6):2012.1-2012.6
• 著者・編者: Japan Society of Human Genetics
• 著者標目: 日本人類遺伝学会 ニホン ジンルイ イデン ガッカイ ( 00295119 )典拠; 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 )典拠; 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 )典拠
• 出版事項: Tokyo : Springer Nature
• 出版年月日等: 2012
• 出版年（W3CDTF）: 2012
• 刊行巻次・年月次: v. 43, no. 1 (1998)-
• 大きさ: 28cm
• 出版地（国名コード）: JP
• 本文の言語コード: eng
• NDLC: ZS16
• 一般注記: 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
• 所蔵機関: 国立国会図書館
• 請求記号: Z54-H248
• 関連情報: 区分換; https://ndlsearch.ndl.go.jp/books/R100000002-I028083539
• 改題前: 継続前; https://ndlsearch.ndl.go.jp/books/R100000002-I000000152079
• 連携機関・データベース: 国立国会図書館 : 国立国会図書館蔵書; https://ndlsearch.ndl.go.jp
• 書誌ID（NDLBibID）: 000000159110; http://id.ndl.go.jp/bib/000000159110
• 全国書誌番号: 10053592
• 目録規則: 日本目録規則1987年版改訂版
• 整理区分コード: 132

目次

New mutations in the GLA gene in Brazilian families with Fabry disease

Evaluating rare variants under two-stage design

Differences in allele frequencies of autosomal dominant hypercholesterolemia SNPs in the Malaysian population

Genome-wide association studies of tuberculosis in Asians identify distinct at-risk locus for young tuberculosis

Four parameters increase the sensitivity and specificity of the exon array analysis and disclose 25 novel aberrantly splice exons in myotonic dystrophy

Phenotype variations in Lafora progressive myoclonus epilepsy : possible involvement of genetic modifiers?

Association of genetic polymorphisms in the RET-protooncogene and NRG1 with Hirschsprung disease in Thai patients

A unique demographic history exists for the MAO-A gene in Polynesians

A genome-wide association study identifies novel susceptibility genetic variation for thyrotoxic hypokalemic periodic paralysis

Association between type 2 diabetes genetic susceptibility loci and visceral and subcutaneous fat area as determined by computed tomography

Kabuki syndrome revisited

Revisiting the role of the Himalayas in peopling Nepal : insights from mitochondrial genomes

A genome-wide association study identifies SNP in DCC is associated with gallbladder cancer in the Japanese population

Family history of von Hippel-Lindau disease was uncommon in Chinese patients : suggesting the higher frequency of de novo mutations in VHL gene in these patients

SNP rs11190870 near LBX1 is associated with adolescent idiopathic scoliosis in southern Chinese

Mechanism of complex gross chromosomal rearrangements : A commentary on Concomitant microduplications of MECP2 and ATRX in male patients with severe mental retardation

Genomic imprinting and its relevance to congenital disease, infertility, molar pregnancy and induced pluripotent stem cell

CAPN3 mRNA processing alteration caused by splicing mutation associated with novel genomic rearrangement of Alu elements

Regions of homozygosity in three Southeast Asian populations

Association of adiponectin polymorphism with cord blood adiponectin concentrations and intrauterine growth

Implications of gene copy-number variation in health and diseases

A Family-based Association Study of DIO2 and children mental retardation in the Qinba region of China

Functional analysis of APOE locus genetic variation implicates regional enhancers in the regulation of both TOMM40 and APOE

Functional single-nucleotide polymorphism of epidermal growth factor is associated with the development of Barrett's esophagus and esophageal adenocarcinoma

Genome-wide association study of copy number variation identified gremlin1 as a candidate gene for lean body mass

Common genetic factors for hematological traits in Humans

Molecular and biochemical characterization of Tunisian patients with glycogen storage disease type Ⅲ

Association of the MMP9 gene with childhood cedar pollen sensitization and pollinosis

Common variants of SLAMF1 and ITLN1 on 1q21 are associated with type 2 diabetes in Indian population

Deletion at chromosome 10p11.23-p12.1 defines characteristic phenotypes with marked midface retrusion