Metadata Search Funding Data Link References Status API Help
Facet browsing currently unavailable
Page 3 of 3516 results
Sort by: relevance publication year
Showing results for ISSN matching 1434-5161

Cluster analysis and association study of structured multilocus genotype data

JOURNAL ARTICLE published February 2005 in Journal of Human Genetics

Authors: Takahiro Nakamura | Akira Shoji | Hironori Fujisawa | Naoyuki Kamatani

https://doi.org/10.1007/s10038-004-0220-x Actions

Genetic variants in the calpain-10 gene and the development of type 2 diabetes in the Japanese population

JOURNAL ARTICLE published February 2005 in Journal of Human Genetics

Authors: Naoko Iwasaki | Yukio Horikawa | Takafumi Tsuchiya | Yutaka Kitamura | Takahiro Nakamura | Yukio Tanizawa | Yoshitomo Oka | Kazuo Hara | Takashi Kadowaki | Takuya Awata | Masashi Honda | Katsuko Yamashita | Naohisa Oda | Li Yu | Norihiro Yamada | Makiko Ogata | Naoyuki Kamatani | Yasuhiko Iwamoto | Laura del Bosque-Plata | M. Geoffrey Hayes | Nancy J. Cox | Graeme I. Bell

https://doi.org/10.1007/s10038-004-0225-5 Actions

A new acro-osteolysis syndrome caused by duplications including PTHLH

JOURNAL ARTICLE published September 2014 in Journal of Human Genetics

Authors: Mary J Gray | Margriet van Kogelenberg | Rachel Beddow | Tim Morgan | Paul Wordsworth | Deborah J Shears | Stephen P Robertson | Jane A Hurst

https://doi.org/10.1038/jhg.2014.58 Actions

Analyses of 5′ regulatory region polymorphisms in human SLC22A6 (OAT1) and SLC22A8 (OAT3)

JOURNAL ARTICLE published June 2006 in Journal of Human Genetics

Authors: Vibha Bhatnagar | Gang Xu | Bruce A. Hamilton | David M. Truong | Satish A. Eraly | Wei Wu | Sanjay K. Nigam

https://doi.org/10.1007/s10038-006-0398-1 Actions

Atypical hemolytic uremic syndrome and genetic aberrations in the complement factor H-related 5 gene

JOURNAL ARTICLE published July 2012 in Journal of Human Genetics

Authors: Dineke Westra | Katherine A Vernon | Elena B Volokhina | Matthew C Pickering | Nicole C A J van de Kar | Lambert P van den Heuvel

https://doi.org/10.1038/jhg.2012.57 Actions

Novel de novo mutation affecting two adjacent aminoacids in the EED gene in a patient with Weaver syndrome

JOURNAL ARTICLE published April 2018 in Journal of Human Genetics

Authors: Robert Smigiel | Anna Biernacka | Mateusz Biela | Victor Murcia-Pienkowski | Elzbieta Szmida | Piotr Gasperowicz | Joanna Kosinska | Grazyna Kostrzewa | Agnieszka Anna Koppolu | Anna Walczak | Dominik Wawrzuta | Malgorzata Rydzanicz | Malgorzata Sasiadek | Rafal Ploski

https://doi.org/10.1038/s10038-017-0391-x Actions

Establishment of a standardized system to perform population structure analyses with limited sample size or with different sets of SNP genotypes

JOURNAL ARTICLE published August 2010 in Journal of Human Genetics

Authors: Natsuhiko Kumasaka | Yumi Yamaguchi-Kabata | Atsushi Takahashi | Michiaki Kubo | Yusuke Nakamura | Naoyuki Kamatani

https://doi.org/10.1038/jhg.2010.63 Actions

Whole-exome sequencing identifies a novel CCDC151 mutation, c.325G>T (p.E109X), in a patient with primary ciliary dyskinesia and situs inversus

JOURNAL ARTICLE published March 2019 in Journal of Human Genetics

Authors: Weizhi Zhang | Dongping Li | Shijie Wei | Ting Guo | Jian Wang | Hong Luo | Yifeng Yang | Zhiping Tan

https://doi.org/10.1038/s10038-018-0540-x Actions

CCND2 polymorphisms associated with clearance of HBV Infection

JOURNAL ARTICLE published July 2010 in Journal of Human Genetics

Authors: Tae Joon Park | Ji-Yong Chun | Joon Seol Bae | Byung Lae Park | Hyun Sub Cheong | Hyo Suk Lee | Yoon Jun Kim | Hyoung Doo Shin

https://doi.org/10.1038/jhg.2010.36 Actions

Association analysis of SLC22A4, SLC22A5 and DLG5 in Japanese patients with Crohn disease

JOURNAL ARTICLE published December 2004 in Journal of Human Genetics

Authors: Keiko Yamazaki | Masakazu Takazoe | Torao Tanaka | Toshiki Ichimori | Susumu Saito | Aritoshi Iida | Yoshihiro Onouchi | Akira Hata | Yusuke Nakamura

https://doi.org/10.1007/s10038-004-0204-x Actions

Paleolithic genetic link between Southern China and Mainland Southeast Asia revealed by ancient mitochondrial genomes

JOURNAL ARTICLE published December 2020 in Journal of Human Genetics

Research funded by National Natural Science Foundation of China (91731303,41925009,41630102) | Chinese Academy of Sciences (XDB26000000)

Authors: Fan Bai | Xinglong Zhang | Xueping Ji | Peng Cao | Xiaotian Feng | Ruowei Yang | Minsheng Peng | Shuwen Pei | Qiaomei Fu

https://doi.org/10.1038/s10038-020-0796-9 Actions

Genetic variants of FOXA2: risk of type 2 diabetes and effect on metabolic traits in North Indians

JOURNAL ARTICLE published December 2008 in Journal of Human Genetics

Authors: Rubina Tabassum | Sreenivas Chavali | Om Prakash Dwivedi | Nikhil Tandon | Dwaipayan Bharadwaj

https://doi.org/10.1007/s10038-008-0335-6 Actions

Association between polymorphism of the dopamine transporter gene and early smoking onset: an interaction risk on nicotine dependence

JOURNAL ARTICLE published January 2004 in Journal of Human Genetics

Authors: Daijun Ling | Tianhua Niu | Yan Feng | Houxun Xing | Xiping Xu

https://doi.org/10.1007/s10038-003-0104-5 Actions

Erratum: PARS2 and NARS2 mutations in infantile-onset neurodegenerative disorder

JOURNAL ARTICLE published May 2017 in Journal of Human Genetics

Authors: Takeshi Mizuguchi | Mitsuko Nakashima | Mitsuhiro Kato | Keitaro Yamada | Tohru Okanishi | Nina Ekhilevitch | Hanna Mandel | Ayelet Eran | Miyuki Toyono | Yukio Sawaishi | Hirotaka Motoi | Masaaki Shiina | Kazuhiro Ogata | Satoko Miyatake | Noriko Miyake | Hirotomo Saitsu | Naomichi Matsumoto

https://doi.org/10.1038/jhg.2017.13 Actions

Introduction of a CD40L genomic fragment via a human artificial chromosome vector permits cell-type-specific gene expression and induces immunoglobulin secretion

JOURNAL ARTICLE published May 2008 in Journal of Human Genetics

Authors: Hidetoshi Yamada | Yanze C. Li | Mitsuo Nishikawa | Mitsuo Oshimura | Toshiaki Inoue

https://doi.org/10.1007/s10038-008-0268-0 Actions

TECTA mutations in Japanese with mid-frequency hearing loss affected by zona pellucida domain protein secretion

JOURNAL ARTICLE published September 2012 in Journal of Human Genetics

Authors: Hideaki Moteki | Shin-ya Nishio | Shigenari Hashimoto | Yutaka Takumi | Satoshi Iwasaki | Norihito Takeichi | Satoshi Fukuda | Shin-ichi Usami

https://doi.org/10.1038/jhg.2012.73 Actions

Imputation approach for deducing a complete mitogenome sequence from low-depth-coverage next-generation sequencing data: application to ancient remains from the Moon Pyramid, Mexico

JOURNAL ARTICLE published June 2017 in Journal of Human Genetics

Authors: Fuzuki Mizuno | Masahiko Kumagai | Kunihiko Kurosaki | Michiko Hayashi | Saburo Sugiyama | Shintaroh Ueda | Li Wang

https://doi.org/10.1038/jhg.2017.14 Actions

A novel 111/121 diplotype in the Calpain-10 gene is associated with type 2 diabetes

JOURNAL ARTICLE published July 2006 in Journal of Human Genetics

Authors: Eun Seok Kang | Hye Joo Kim | Moonsuk Nam | Chung Mo Nam | Chul Woo Ahn | Bong Soo Cha | Hyun Chul Lee

https://doi.org/10.1007/s10038-006-0410-9 Actions

Effects of a polymorphism in the GFAP promoter on the age of onset and ambulatory disability in late-onset Alexander disease

JOURNAL ARTICLE published September 2013 in Journal of Human Genetics

Authors: Tomokatsu Yoshida | Ikuko Mizuta | Kozo Saito | Ryo Ohara | Hiroshi Kurisaki | Keiko Ohnari | Yuichi Riku | Yuichi Hayashi | Hidekazu Suzuki | Hiroaki Shii | Yasuhiro Fujiwara | Tadahiro Yonezu | Akiko Nagaishi | Masanori Nakagawa

https://doi.org/10.1038/jhg.2013.83 Actions

A common Ile796Val polymorphism of the human SREBP cleavage-activating protein (SCAP) gene

JOURNAL ARTICLE published October 1999 in Journal of Human Genetics

Authors: Kikumi Iwaki | Toshiaki Nakajima | Nobutaka Ota | Mitsuru Emi

https://doi.org/10.1007/s100380050193 Actions
Feedback: support@crossref.org