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Adrenergic-β2 receptor polymorphism and athletic performance

JOURNAL ARTICLE published August 2010 in Journal of Human Genetics

Authors: Vishnu Sarpeshkar | David J Bentley

Dual-receptor (EGFR and c-MET) inhibition by tumor-suppressive miR-1 and miR-206 in head and neck squamous cell carcinoma

JOURNAL ARTICLE published January 2017 in Journal of Human Genetics

Authors: Keiichi Koshizuka | Toyoyuki Hanazawa | Ichiro Fukumoto | Naoko Kikkawa | Ryosuke Matsushita | Hiroko Mataki | Keiko Mizuno | Yoshitaka Okamoto | Naohiko Seki

Making a haplotype catalog with estimated frequencies based on SNP homozygotes

JOURNAL ARTICLE published August 2010 in Journal of Human Genetics

Authors: Yumi Yamaguchi-Kabata | Tatsuhiko Tsunoda | Atsushi Takahashi | Naoya Hosono | Michiaki Kubo | Yusuke Nakamura | Naoyuki Kamatani

Three novel mutations in the carnitine–acylcarnitine translocase (CACT) gene in patients with CACT deficiency and in healthy individuals

JOURNAL ARTICLE published December 2013 in Journal of Human Genetics

Authors: Takao Fukushima | Hidetoshi Kaneoka | Tetsuhiko Yasuno | Yukari Sasaguri | Tomoko Tokuyasu | Kuniko Tokoro | Toshiyuki Fukao | Takao Saito

Mediation analysis of alcohol consumption, DNA methylation, and epithelial ovarian cancer

JOURNAL ARTICLE published March 2018 in Journal of Human Genetics

Authors: Dongyan Wu | Haitao Yang | Stacey J. Winham | Yanina Natanzon | Devin C. Koestler | Tiane Luo | Brooke L. Fridley | Ellen L. Goode | Yanbo Zhang | Yuehua Cui

Molecular characterization of a novel translocation t(5;14)(q21;q32) in a patient with congenital abnormalities

JOURNAL ARTICLE published April 2006 in Journal of Human Genetics

Authors: Shawkat Haider | Rie Matsumoto | Nobuyuki Kurosawa | Keiko Wakui | Yoshimitsu Fukushima | Masaharu Isobe

ATP6V0C gene variants were identified in individuals with epilepsy, with or without developmental delay

JOURNAL ARTICLE published September 2023 in Journal of Human Genetics

Authors: Siyu Zhao | Xiaoling Zhang | Le Yang | Yan Wang | ShanShan Jia | Xia Li | Zhijing Wang | Fan Yang | Mengmeng Liang | Xiuxia Wang | Dong Wang

Identification of small-sized intrachromosomal segments at the ends of INV–DUP–DEL patterns

JOURNAL ARTICLE published November 2023 in Journal of Human Genetics

Authors: Keiko Shimojima Yamamoto | Takeaki Tamura | Nobuhiko Okamoto | Eriko Nishi | Atsuko Noguchi | Ikuko Takahashi | Yukio Sawaishi | Masaki Shimizu | Hitoshi Kanno | Yohei Minakuchi | Atsushi Toyoda | Toshiyuki Yamamoto

Identification of a missense variant of MND1 in meiotic arrest and non-obstructive azoospermia

JOURNAL ARTICLE published November 2023 in Journal of Human Genetics

Authors: Jingpeng Zhao | Zhiyong Ji | Guiquan Meng | Jiaqiang Luo | Yuxiang Zhang | Ningjing Ou | Haowei Bai | Ruhui Tian | Erlei Zhi | Yuhua Huang | Nachuan Liu | Wenbin He | Yueqiu Tan | Zheng Li | Chencheng Yao | Peng Li

Frequency and distribution of BRCA1/BRCA2 large genomic rearrangements in Turkish population with breast cancer

JOURNAL ARTICLE published July 2023 in Journal of Human Genetics

Authors: Tugba Akin Duman | Fatma Nihal Ozturk

Human endogenous retrovirus K14C drove genomic diversification of the Y chromosome during primate evolution

JOURNAL ARTICLE published November 2010 in Journal of Human Genetics

Authors: Ho-Su Sin | Eitetsu Koh | Dae-Soo Kim | Miho Murayama | Kazuhiro Sugimoto | Yuji Maeda | Atsumi Yoshida | Mikio Namiki

Clinical and genetic investigation of isolated microspherophakia in a consanguineous Tunisian family

JOURNAL ARTICLE published September 2009 in Journal of Human Genetics

Authors: Salim Ben Yahia | Farah Ouechtati | Bechir Jelliti | Sonia Nouira | Sonia Chakroun | Sonia Abdelhak | Moncef Khairallah

Integrated analysis of probability of type 2 diabetes mellitus with polymorphisms and methylation of SLC30A8 gene: a nested case-control study

JOURNAL ARTICLE published November 2022 in Journal of Human Genetics

Authors: Fulan Hu | Yanyan Zhang | Pei Qin | Yang Zhao | Dechen Liu | Qionggui Zhou | Gang Tian | Quanman Li | Chunmei Guo | Xiaoyan Wu | Ranran Qie | Shengbing Huang | Minghui Han | Yang Li | Dongsheng Hu | Ming Zhang

The utility of post-test newborn blood spot screening cards for epigenetic association analyses: association between HIF3A methylation and birth weight-for-gestational age

JOURNAL ARTICLE published August 2019 in Journal of Human Genetics

Research funded by MEXT | Japan Society for the Promotion of Science (JP17K10174)

Authors: Tay Zar Kyaw | Seiji Yamaguchi | Chihiro Imai | Marina Uematsu | Noriko Sato

Updated summary of genome editing technology in human cultured cells linked to human genetics studies

JOURNAL ARTICLE published February 2018 in Journal of Human Genetics

Authors: Tatsuo Miyamoto | Silvia Natsuko Akutsu | Shinya Matsuura

Haplotype analysis at the alcohol dehydrogenase gene region in New Zealand Māori

JOURNAL ARTICLE published February 2007 in Journal of Human Genetics

Authors: David A. Hall | Geoffrey K. Chambers | Rodney A. Lea

Unified method for Bayesian calculation of genetic risk

JOURNAL ARTICLE published April 2006 in Journal of Human Genetics

Authors: Shin-ichi Kuno | Shiori Furihata | Toshikazu Itou | Kayoko Saito | Naoyuki Kamatani

Linkage disequilibrium and haplotype analysis among eight novel single-nucleotide polymorphisms in the human tissue-type plasminogen activator (t-PA) gene

JOURNAL ARTICLE published June 2001 in Journal of Human Genetics

Authors: I. Nakazawa | T. Nakajima | T. Ishigami | S. Umemura | M. Emi

A new haplogroup pattern displayed in Fujian Han in China

JOURNAL ARTICLE published February 2002 in Journal of Human Genetics

Authors: M. Yu | Y. Zhang | Y. Xue | F. Chen | Q. Wang | X. Huang | B. Wang | Y. Yu | A. Liu | L. Ma | R. Shi | F. Lu | Z. Shi | Y. Zhang | W. Cheng | Q. Ai | F. Xu | C. Huang | B. Chen | H. Yang | X. Kang | Y. Sun | G. Zhang | P. Li | S. Fu

Association analysis of nine missense polymorphisms in the coagulation factor V gene with severe preeclampsia in pregnant Japanese women

JOURNAL ARTICLE published March 2002 in Journal of Human Genetics

Authors: H. Watanabe | H. Hamada | N. Yamada | S. Sohda | K. Yamakawa-Kobayashi | H. Yoshikawa | T. Arinami