Metadata Search Funding Data Link References Status API Help
Facet browsing currently unavailable
Page 1 of 3513 results
Sort by: relevance publication year
Showing results for ISSN matching 1434-5161

Trans-ancestral dissection of urate- and gout-associated major loci SLC2A9 and ABCG2 reveals primate-specific regulatory effects

JOURNAL ARTICLE published February 2021 in Journal of Human Genetics

Authors: Riku Takei | Murray Cadzow | David Markie | Matt Bixley | Amanda Phipps-Green | Tanya J. Major | Changgui Li | Hyon K. Choi | Zhiqiang Li | Hua Hu | Hui Guo | Meian He | Yongyong Shi | Lisa K. Stamp | Nicola Dalbeth | Tony R. Merriman | Wen-Hua Wei | Eurogout Consortium

https://doi.org/10.1038/s10038-020-0821-z Actions

A commentary on 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

JOURNAL ARTICLE published March 2015 in Journal of Human Genetics

Authors: Katarina Pelin | Kirsi Kiiski | Vilma-Lotta Lehtokari | Carina Wallgren-Pettersson

https://doi.org/10.1038/jhg.2014.120 Actions

Six-layer structure for genomics and its applications

JOURNAL ARTICLE published March 2016 in Journal of Human Genetics

Authors: Naoyuki Kamatani

https://doi.org/10.1038/jhg.2015.137 Actions

Farewell: retirement as Editor-in-Chief of the Journal of Human Genetics and launching Human Genome Variation

JOURNAL ARTICLE published January 2014 in Journal of Human Genetics

Authors: Katsushi Tokunaga

https://doi.org/10.1038/jhg.2013.126 Actions

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

JOURNAL ARTICLE published September 2013 in Journal of Human Genetics

Authors: Hyunju Ryoo | Minyoung Kong | Younyoung Kim | Chaeyoung Lee

https://doi.org/10.1038/jhg.2013.62 Actions

Erratum: Haplotype analysis of the CAG and CCG repeats in 21 Brazilian families with Huntington’s disease

JOURNAL ARTICLE published December 2012 in Journal of Human Genetics

Authors: Luciana de A Agostinho | Catielly F Rocha | Enrique Medina-Acosta | Hazel N Barboza | Antônio F Alves da Silva | Simão P F Pereira | Iane dos Santos da Silva | Eduardo R Paradela | André L dos S Figueiredo | Eduardo de M Nogueira | Regina M P Alvarenga | Pedro Hernan Cabello | Suely R dos Santos | Carmen L A Paiva

https://doi.org/10.1038/jhg.2012.125 Actions

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

JOURNAL ARTICLE published December 2014 in Journal of Human Genetics

Authors: Alina Teresa Midro | Barbara Panasiuk | Beata Stasiewicz-Jarocka | Marta Olszewska | Ewa Wiland | Marta Myśliwiec | Maciej Kurpisz | Lisa G Shaffer | Marzena Gajecka

https://doi.org/10.1038/jhg.2014.92 Actions

Correction: Corrigendum: The paternal ancestry of Uttarakhand does not imitate the classical caste system of India

JOURNAL ARTICLE published September 2016 in Journal of Human Genetics

Authors: Neetu Negi | Rakesh Tamang | Veena Pande | Amrita Sharma | Anish Shah | Alla G Reddy | Satti Vishnupriya | Lalji Singh | Gyaneshwer Chaubey | Kumarasamy Thangaraj

https://doi.org/10.1038/jhg.2016.48 Actions

Association of rare PTP4A1-PHF3-EYS variants with alcohol dependence

JOURNAL ARTICLE published March 2013 in Journal of Human Genetics

Authors: Lingjun Zuo | Xiangyang Zhang | Hong-wen Deng | Xingguang Luo

https://doi.org/10.1038/jhg.2012.153 Actions

Unexpected functional similarities between gatekeeper tumour suppressor genes and proto-oncogenes revealed by systems biology

JOURNAL ARTICLE published May 2011 in Journal of Human Genetics

Authors: Yongzhong Zhao | Richard J Epstein

https://doi.org/10.1038/jhg.2011.21 Actions

Commentary on ‘Mutation spectrum of the dystrophin gene in 442 Duchenne/Becker muscular dystrophy cases from one Japanese referral center’

JOURNAL ARTICLE published September 2010 in Journal of Human Genetics

Authors: Eri Kondo-Iida

https://doi.org/10.1038/jhg.2010.69 Actions

Major contribution of dominant inheritance to autism spectrum disorders (ASDs) in population-based families

JOURNAL ARTICLE published December 2009 in Journal of Human Genetics

Authors: Takeshi Nishiyama | Morihiro Notohara | Satoshi Sumi | Satoshi Takami | Hirohisa Kishino

https://doi.org/10.1038/jhg.2009.105 Actions

Concordance of two multiple analytical approaches demonstrate that interaction between BMI and ADIPOQ haplotypes is a determinant of LDL cholesterol in a general French population

JOURNAL ARTICLE published April 2010 in Journal of Human Genetics

Authors: Francis Vasseur | Thomas Caeyseele | Mouna Barat-Houari | Stéphane Lobbens | Aline Meirhaeghe | David Meyre | Philippe Froguel | Philippe Amouyel | Nicole Helbecque

https://doi.org/10.1038/jhg.2010.10 Actions

Comparison of genome-wide variation between Malawians and African ancestry HapMap populations

JOURNAL ARTICLE published June 2010 in Journal of Human Genetics

Authors: Bonnie R Joubert | and the NIAID Center for HIV/AIDS Vaccine Immunology | Kari E North | Yunfei Wang | Victor Mwapasa | Nora Franceschini | Steven R Meshnick | Ethan M Lange

https://doi.org/10.1038/jhg.2010.41 Actions

Pleiotropy of type 2 diabetes with obesity

JOURNAL ARTICLE published July 2011 in Journal of Human Genetics

Authors: Sandra J Hasstedt | the American Diabetes Association GENNID Study Group | Craig L Hanis | Swapan K Das | Steven C Elbein

https://doi.org/10.1038/jhg.2011.46 Actions

A commentary on comparison of the performance of Ion Torrent chips in noninvasive prenatal trisomy detection

JOURNAL ARTICLE published August 2014 in Journal of Human Genetics

Authors: Osamu Samura

https://doi.org/10.1038/jhg.2014.56 Actions

A commentary on types of DNA methylation status of the interspersed repetitive sequences for LINE-1, Alu, HERV-E and HERV-K in the neutrophils from systemic lupus erythematosus patients and healthy controls

JOURNAL ARTICLE published April 2014 in Journal of Human Genetics

Authors: Wesley Brooks

https://doi.org/10.1038/jhg.2014.8 Actions

A common polymorphism in the tissue kallikrein gene is associated with increased urinary excretions of calcium and sodium in Japanese volunteers

JOURNAL ARTICLE published November 2013 in Journal of Human Genetics

Authors: Tomoe Fujita | Shuichi Yasuda | Mariko Kamata | Yuji Kamata | Yuji Kumagai | Masataka Majima

https://doi.org/10.1038/jhg.2013.93 Actions

Erratum: 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

JOURNAL ARTICLE published February 2015 in Journal of Human Genetics

Authors: Tarik Ghadban | Magdalena Schmidt-Yang | Faik G Uzunoglu | Daniel R Perez | Tung Y Tsui | Alexander T El Gammal | Peter J Erbes | Veacheslav Zilbermints | Ulrich Wellner | Klaus Pantel | Jakob R Izbicki | Yogesh K Vashist

https://doi.org/10.1038/jhg.2014.106 Actions

A message for 2016

JOURNAL ARTICLE published June 2016 in Journal of Human Genetics

Authors: Naomichi Matsumoto

https://doi.org/10.1038/jhg.2016.41 Actions
Feedback: support@crossref.org