Journal of human genetics

• Material Type: 雑誌
• ISSN: 1434-5161
• Title: Journal of human genetics
• Volume: 59(7)-59(12):2014.7-2014.12
• 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: 2014
• Publication Date (W3CDTF): 2014
• 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

Nonparametric method for detecting imprinting effect using all members of general pedigrees with missing data

Clinical and molecular studies in four patients with SRY-positive 46,XX testicular disorders of sex development : implications for variable sex development and genomic rearrangements

Telomerase expression in amyotrophic lateral sclerosis (ALS) patients

Three novel mutations of the FBN1 gene in Chinese children with acromelic dysplasia

A Japanese SCA5 family with a novel three-nucleotide in-frame deletion mutation in the SPTBN2 gene : a clinical and genetic study

Influence of MILR1 promoter polymorphism on expression levels and the phenotype of atopy

A new acro-osteolysis syndrome caused by duplications including PTHLH

Germline mutation of Glu70Lys is highly frequent in Korean patients with von Hippel-Lindau (VHL) disease

Isolation, contact and social behavior shaped genetic diversity in West Timor

Alterations to DNA methylation and expression of CXCL14 are associated with suboptimal birth outcomes

Identification of the rare compound heterozygous variants in the NEB gene in a Korean family with intellectual disability, epilepsy and early-childhood-onset generalized muscle weakness

Precise detection of chromosomal translocation or inversion breakpoints by whole-genome sequencing

Sequence variants of the HTR3A gene contribute to the genetic prediction of postoperative nausea in Taiwan

An A/C germline single-nucleotide polymorphism in the TNFAIP3 gene is associated with advanced disease stage and survival in only surgically treated esophageal cancer

Recurrence risks for different pregnancy outcomes and meiotic segregation analysis of spermatozoa in carriers of t(1;11)(p36.22;q12.2)

Complete mitogenome analysis of indigenous populations in Mexico : its relevance for the origin of Mesoamericans

Mutation profile of BBS genes in Iranian patients with Bardet–Biedl syndrome : genetic characterization and report of nine novel mutations in five BBS genes

A labor- and cost-effective non-optical semiconductor (Ion Torrent) next-generation sequencing of the SLC12A3 and CLCNKA/B genes in Gitelman's syndrome patients

Genetic polymorphism 609C>T in NAD(P)H:quinone oxidoreductase 1 enhances the risk of proximal colon cancer

Mild reduction of plasmalogens causes rhizomelic chondrodysplasia punctate : functional characterization of a novel mutation

Mutation analysis of glycine decarboxylase, aminomethyltransferase and glycine cleavage system protein-H genes in 13 unrelated families with glycine encephalopathy

Resolving the genetic heterogeneity of prelingual hearing loss within one family : Performance comparison and application of two targeted next generation sequencing approaches

The first case in Asia of 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency (HSD10 disease) with atypical presentation

The influence of admixture and consanguinity on population genetic diversity in Middle East

Novel locus for fibrinogen in 3' region of LEPR gene in island population of Vis (Croatia)

A novel splicing silencer generated by DMD exon 45 deletion junction could explain upstream exon 44 skipping that modifies dystrophinopathy

Genetic variations in RORα are associated with chronic obstructive pulmonary disease

Genetic variation of TBX21 gene increases risk of asthma and its severity in Indian children

Biosynthetic and functional defects in newly identified SLC4A11 mutants and absence of COL8A2 mutations in Fuchs endothelial corneal dystrophy

New variants, challenges and pitfalls in DMD genotyping : implications in diagnosis, prognosis and therapy