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Showing results for ISSN matching 1434-5161

A new association of PAX6 variation with Juvenile onset open angle glaucoma

JOURNAL ARTICLE published May 2023 in Journal of Human Genetics

Research funded by Indian Council of Medical Research (ISRM/12(58)/2019)

Authors: Viney Gupta | Bindu I. Somarajan | Shikha Gupta | Karthikeyan Mahalingam | Abhishek Singh | Arundhati Sharma

https://doi.org/10.1038/s10038-022-01115-z Actions

Germline mutations causing familial lung cancer

JOURNAL ARTICLE published October 2015 in Journal of Human Genetics

Authors: Koichi Tomoshige | Keitaro Matsumoto | Tomoshi Tsuchiya | Masahiro Oikawa | Takuro Miyazaki | Naoya Yamasaki | Hiroyuki Mishima | Akira Kinoshita | Toru Kubo | Kiyoyasu Fukushima | Koh-ichiro Yoshiura | Takeshi Nagayasu

https://doi.org/10.1038/jhg.2015.75 Actions

Genetic variation in populations from central Argentina based on mitochondrial and Y chromosome DNA evidence

JOURNAL ARTICLE published April 2018 in Journal of Human Genetics

Authors: Angelina García | Maia Pauro | Graciela Bailliet | Claudio M. Bravi | Darío A. Demarchi

https://doi.org/10.1038/s10038-017-0406-7 Actions

Autosomal recessive deafness 1A (DFNB1A) in Yakut population isolate in Eastern Siberia: extensive accumulation of the splice site mutation IVS1+1G>A in GJB2 gene as a result of founder effect

JOURNAL ARTICLE published September 2011 in Journal of Human Genetics

Authors: Nikolay A Barashkov | Lilya U Dzhemileva | Sardana A Fedorova | Fedor M Teryutin | Olga L Posukh | Elvira E Fedotova | Simeon L Lobov | Elza K Khusnutdinova

https://doi.org/10.1038/jhg.2011.72 Actions

INPPL1 gene mutations in opsismodysplasia

JOURNAL ARTICLE published February 2017 in Journal of Human Genetics

Authors: Anaïs Fradet | Jamie Fitzgerald

https://doi.org/10.1038/jhg.2016.119 Actions

Cyclooxygenase-2 haplotypes influence the longitudinal risk of malaria and severe malarial anemia in Kenyan children from a holoendemic transmission region

JOURNAL ARTICLE published February 2020 in Journal of Human Genetics

Authors: Samuel B. Anyona | Nicolas W. Hengartner | Evans Raballah | John Michael Ong’echa | Nick Lauve | Qiuying Cheng | Paul W. Fenimore | Collins Ouma | Christophe G. Lambert | Benjamin H. McMahon | Douglas J. Perkins

https://doi.org/10.1038/s10038-019-0692-3 Actions

Association of an intragenic microsatellite marker in the CC16 gene with asthma in the Indian population

JOURNAL ARTICLE published December 2004 in Journal of Human Genetics

Authors: Shilpy Sharma | Balaram Ghosh

https://doi.org/10.1007/s10038-004-0206-8 Actions

Expression and phylogenetic analyses of human endogenous retrovirus HC2 belonging to the HERV-T family in human tissues and cancer cells

JOURNAL ARTICLE published April 2007 in Journal of Human Genetics

Authors: Joo-Mi Yi | Heui-Soo Kim

https://doi.org/10.1007/s10038-007-0115-8 Actions

Heterozygosities and allelic frequencies of 811 dinucleotide-repeat marker loci in the Taiwanese population

JOURNAL ARTICLE published June 2004 in Journal of Human Genetics

Authors: Cheng-Hsin Lu | Cherry Guan-Ju Lin | Lichih Huang | Ling-Mei Wang | Lawrence Shih-Hsin Wu

https://doi.org/10.1007/s10038-004-0152-5 Actions

Two novel nonsense mutations in GALNT3 gene are responsible for familial tumoral calcinosis

JOURNAL ARTICLE published May 2007 in Journal of Human Genetics

Authors: Anna Maria Barbieri | Marcello Filopanti | Guido Bua | Paolo Beck-Peccoz

https://doi.org/10.1007/s10038-007-0126-5 Actions

Cancer genetics: colorectal cancer as a model

JOURNAL ARTICLE published May 2006 in Journal of Human Genetics

Authors: Walter F. Bodmer

https://doi.org/10.1007/s10038-006-0373-x Actions

Utility of tissue-specific gene expression scores for gene prioritization in Mendelian diseases

JOURNAL ARTICLE published December 2022 in Journal of Human Genetics

Authors: Daiki Kato | Satomi Mitsuhashi | Fuyuki Miya | Shinji Saitoh | Nobuhiko Okamoto | Tatsuhiko Tsunoda | Yuta Kochi

https://doi.org/10.1038/s10038-022-01071-8 Actions

Acknowledgment to the reviewers in 2022

JOURNAL ARTICLE published April 2023 in Journal of Human Genetics

Authors: Toshihiro Tanaka

https://doi.org/10.1038/s10038-023-01127-3 Actions

Y chromosome analysis for common surnames in the Japanese male population

JOURNAL ARTICLE published July 2021 in Journal of Human Genetics

Authors: Eriko Ochiai | Motoki Osawa | Shiori Satoh | Tomonori Tamura | Masato Nakatome | Yu Kaneko | Yu Kakimoto | Kiyoshi Minaguchi

https://doi.org/10.1038/s10038-020-00884-9 Actions

Adrenoleukodystrophy siblings with a novel ABCD1 missense variant presenting with phenotypic differences: a case report and literature review

JOURNAL ARTICLE published May 2021 in Journal of Human Genetics

Authors: Yuka Shibata | Masaaki Matsushima | Takashi Matsukawa | Hiroyuki Ishiura | Shoji Tsuji | Ichiro Yabe

https://doi.org/10.1038/s10038-020-00866-x Actions

IDDCA syndrome in a Chinese infant due to GNB5 biallelic mutations

JOURNAL ARTICLE published July 2020 in Journal of Human Genetics

Authors: Mingxing Tang | Yajian Wang | Yuanyuan Xu | Wenjia Tong | Danqun Jin | Xiu-An Yang

https://doi.org/10.1038/s10038-020-0742-x Actions

Correction: Importance of gastric cancer for the diagnosis and surveillance of Japanese Lynch syndrome patients

JOURNAL ARTICLE published July 2020 in Journal of Human Genetics

Authors: Tsuneo Ikenoue | The Japanese society for cancer of the colon and rectum (JSCCR) | Masami Arai | Chikashi Ishioka | Takeo Iwama | Satoshi Kaneko | Nagahide Matsubara | Yoshihiro Moriya | Tadashi Nomizu | Kokichi Sugano | Kazuo Tamura | Naohiro Tomita | Teruhiko Yoshida | Kenichi Sugihara | Hiromu Naruse | Kiyoshi Yamaguchi | Masanori Nojima | Yusuke Nakamura | Yoichi Furukawa

https://doi.org/10.1038/s10038-020-0747-5 Actions

Correction: Maternal age-specific risk for trisomy 21 based on the clinical performance of NIPT and empirically derived NIPT age-specific positive and negative predictive values in Japan

JOURNAL ARTICLE published October 2018 in Journal of Human Genetics

Authors: Takahiro Yamada | Japan NIPT consortium* | Akihiko Sekizawa | Yosuke Fujii | Tatsuko Hirose | Osamu Samura | Nobuhiro Suzumori | Kiyonori Miura | Hideaki Sawai | Fumiki Hirahara | Jun Murotsuki | Yoshimasa Kamei | Haruhiko Sago

https://doi.org/10.1038/s10038-018-0486-z Actions

Leucine-485 deletion variant of BRAF may exhibit the severe end of the clinical spectrum of CFC syndrome

JOURNAL ARTICLE published May 2019 in Journal of Human Genetics

Authors: Sato Suzuki-Muromoto | Takuya Miyabayashi | Koki Nagai | Saeko Yamamura-Suzuki | Mai Anzai | Yusuke Takezawa | Ryo Sato | Yukimune Okubo | Wakaba Endo | Takehiko Inui | Noriko Togashi | Atsuo Kikuchi | Tetsuya Niihori | Yoko Aoki | Shigeo Kure | Kazuhiro Haginoya

https://doi.org/10.1038/s10038-019-0579-3 Actions

Gene association detection via local linear regression method

JOURNAL ARTICLE published February 2020 in Journal of Human Genetics

Authors: Jinli He | Weijun Ma | Ying Zhou

https://doi.org/10.1038/s10038-019-0676-3 Actions
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