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: 56(1)-56(6):2011.1-2011.6
• 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: 2011
• 出版年（W3CDTF）: 2011
• 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

Hypophosphatasia now draws more attention of both clinicians and researchers: a commentary on prevelance of c. 1559delT in ALPL, a common mutation resulting in the perinatal (lethal) form of hypophosphatasias in Japanese and effects of the mutation on heterozygous carriers

Knowledge gaining by human genetic studies on tuberculosis susceptibility

Analysis of Hungarian patients with Rett syndrome phenotype for MECP2, CDKL5 and FOXG1 gene mutations

Association of ADAM33 gene polymorphisms with asthma in Indian children

Association of HLA-A[*]02:06 and HLA-DRB1[*]04:05 with clinical subtypes of juvenile idiopathic arthritis

The Soliga, an isolated tribe from Southern India: genetic diversity and phylogenetic affinities

MicroRNA-141 confers resistance to cisplatin-induced apoptosis by targeting YAP1 in human esophageal squamous cell carcinoma

Novel PTCH1 mutations in Japanese Nevoid basal cell carcinoma syndrome patients: two familial and three sporadic cases including the first Japanese patient with medulloblastoma

Polymorphisms of the PTGDR and LTC4S influence responsiveness to leukotriene receptor antagonists in Korean children with asthma

Proposal of pharmacogenetics-based warfarin dosing algorithm in Korean patients

De novo 19q13.42 duplications involving NLRP gene cluster in a patient with systemic-onset juvenile idiopathic arthritis

Hypospadias associated with hypertelorism, the mildest phenotype of Opitz syndrome

Mutation in PVRL4 gene encoding nectin-4 underlies ectodermal-dysplasia-syndactyly syndrome (EDSS1)

For what am I participating?: the need for communication after receiving consent from biobanking project participants: experience in Japan

Molecular diagnosis and clinical onset of Charcot-Marie-Tooth disease in Japan

X-linked adrenoleukodystrophy: diagnostic and follow-up system in Japan

Clinical application of array-based comparative genomic hybridization by two-stage screening for 536 patients with mental retardation and multiple congenital anomalies

SNPs in axon guidance pathway genes and susceptibility for Parkinson's disease in the Korean population

Genetic affinity and admixture of northern Thai people along their migration route in northern Thailand: evidence from autosomal STR loci

Identification of novel MLC1 mutations in Chinese patients with megalencephalic leukoencephalopathy with subcortical cysts (MLC)

Editorial: In the new year

Genotype-phenotype associations and human eye color

Identification of a microdeletion at Xp22.13 in a Taiwanese family presenting with Nance-Horan syndrome

The ENPP1 K121Q polymorphism is not associated with type 2 diabetes or obesity in the Chinese Han population

Methylenetetrahydrofolate reductase gene polymorphisms and cerebral palsy in Chinese infants

Evaluation of next-generation sequencing software in mapping and assembly

Analysis of CYP3A4 genetic polymorphisms in Han Chinese

HLA-C, CSTA and DS12346 susceptibility alleles confer over 100-fold increased risk of developing psoriasis: evidence of gene interaction

Factors affecting the effective number of tests in genetic association studies: a comparative study of three PCA-based methods

Common variants on 14q32 and 13q12 are associated with DLBCL susceptibility