Metadata Search Funding Data Link References Status API Help
Facet browsing currently unavailable
Page 5 of 3516 results
Sort by: relevance publication year
Showing results for ISSN matching 1434-5161

A genome-wide CNV association study on panic disorder in a Japanese population

JOURNAL ARTICLE published December 2011 in Journal of Human Genetics

Authors: Yoshiya Kawamura | Takeshi Otowa | Asako Koike | Nagisa Sugaya | Eiji Yoshida | Shin Yasuda | Ken Inoue | Kunio Takei | Yoshiaki Konishi | Hisashi Tanii | Takafumi Shimada | Mamoru Tochigi | Chihiro Kakiuchi | Tadashi Umekage | Xiaoxi Liu | Nao Nishida | Katsushi Tokunaga | Ryozo Kuwano | Yuji Okazaki | Hisanobu Kaiya | Tsukasa Sasaki

https://doi.org/10.1038/jhg.2011.117 Actions

Five novel single-nucleotide polymorphisms of human interferon gamma identified by sequencing the entire gene

JOURNAL ARTICLE published January 2001 in Journal of Human Genetics

Authors: H. Iwasaki | N. Ota | T. Nakajima | Y. Shinohara | M. Kodaira | M. Kajita | M. Emi

https://doi.org/10.1007/s100380170121 Actions

Phenotype variations in Lafora progressive myoclonus epilepsy: possible involvement of genetic modifiers?

JOURNAL ARTICLE published May 2012 in Journal of Human Genetics

Authors: Shweta Singh | Subramaniam Ganesh

https://doi.org/10.1038/jhg.2012.29 Actions

Frequent loss of heterozygosity at 3p25-p26 is associated with invasive oral squamous cell carcinoma

JOURNAL ARTICLE published May 2001 in Journal of Human Genetics

Authors: H. Kayahara | H. Yamagata | H. Tanioka | T. Miki | H. Hamakawa

https://doi.org/10.1007/s100380170069 Actions

Subtelomeric deletions of 1q43q44 and severe brain impairment associated with delayed myelination

JOURNAL ARTICLE published September 2012 in Journal of Human Genetics

Authors: Keiko Shimojima | Nobuhiko Okamoto | Yume Suzuki | Mari Saito | Masato Mori | Tatanori Yamagata | Mariko Y Momoi | Hideji Hattori | Yoshiyuki Okano | Ken Hisata | Akihisa Okumura | Toshiyuki Yamamoto

https://doi.org/10.1038/jhg.2012.77 Actions

Novel biallelic mutations in PADI6 in patients with early embryonic arrest

JOURNAL ARTICLE published May 2022 in Journal of Human Genetics

Research funded by National Natural Science Foundation of China (82171643,81971450,81822019)

Authors: Jie Dong | Jing Fu | Zheng Yan | Lin Li | Ying Qiu | Yang Zeng | Ruyi Liu | Biaobang Chen | Rong Shi | Feiyang Diao | Lei Wang | Qiuwen Shi | Qing Sang

https://doi.org/10.1038/s10038-021-00998-8 Actions

Exogenous gene expression and growth regulation of hematopoietic cells via a novel human artificial chromosome

JOURNAL ARTICLE published February 2006 in Journal of Human Genetics

Authors: Hidetoshi Yamada | Atsushi Kunisato | Masahiro Kawahara | Candice G. T. Tahimic | Xianying Ren | Hiroshi Ueda | Teruyuki Nagamune | Motonobu Katoh | Toshiaki Inoue | Mitsuo Nishikawa | Mitsuo Oshimura

https://doi.org/10.1007/s10038-005-0334-9 Actions

Noncoding RNAs: a new fine-tuner is a key player of human pathogenesis

JOURNAL ARTICLE published January 2017 in Journal of Human Genetics

Authors: Naohiko Seki | Akira Hata

https://doi.org/10.1038/jhg.2016.140 Actions

DNA-based diagnosis of malignant osteopetrosis by whole-genome scan using a single-nucleotide polymorphism microarray: standardization of molecular investigations of genetic diseases due to consanguinity

JOURNAL ARTICLE published January 2007 in Journal of Human Genetics

Authors: Ching-Wan Lam | Sui-Fan Tong | Keong Wong | Y. F. Luo | Hoi-Yin Tang | Shau-Yin Ha | Michael Ho-Ming Chan

https://doi.org/10.1007/s10038-006-0075-4 Actions

22q11.2 rearrangements found in women with low ovarian reserve and premature ovarian insufficiency

JOURNAL ARTICLE published May 2018 in Journal of Human Genetics

Authors: Sylvie Jaillard | Elena J Tucker | Linda Akloul | Marion Beaumont | Mathilde Domin | Laurent Pasquier | Guilhem Jouve | Sylvie Odent | Marc-Antoine Belaud-Rotureau | Célia Ravel

https://doi.org/10.1038/s10038-018-0433-z Actions

Identification of genetic variants in CFAP221 as a cause of primary ciliary dyskinesia

JOURNAL ARTICLE published February 2020 in Journal of Human Genetics

Research funded by U.S. Department of Health & Human Services | National Institutes of Health (R01HL071798,R01HL117836,UL1 TR000083,UL1 TR000083,UM1HG006504,U24 HG008956,UL1 TR000083,T32-MH014677,R01HD078641,R01MH101810,5U54HL096458,UL1 TR000083,UM1HG006504,U24 HG008956,5U54HL096458,R01HL071798,R01HL117836,UL1 TR000083,UM1HG006504,U24 HG008956,5U54HL096458,R01HL071798,R01HL117836,UL1 TR000083,UM1HG006504,U24 HG008956) | U.S. Department of Health & Human Services | NIH | Office of Extramural Research, National Institutes of Health (U24 HG008956)

Authors: Ximena M. Bustamante-Marin | Adam Shapiro | Patrick R. Sears | Wu-Lin Charng | Donald F. Conrad | Margaret W. Leigh | Michael R. Knowles | Lawrence E. Ostrowski | Maimoona A. Zariwala

https://doi.org/10.1038/s10038-019-0686-1 Actions

Association of the SLC45A2 gene with physiological human hair colour variation

JOURNAL ARTICLE published December 2008 in Journal of Human Genetics

Authors: Wojciech Branicki | Urszula Brudnik | Jolanta Draus-Barini | Tomasz Kupiec | Anna Wojas-Pelc

https://doi.org/10.1007/s10038-008-0338-3 Actions

Genome-wide DNA methylation profiling and exome sequencing resolved a long-time misdiagnosed case

JOURNAL ARTICLE published September 2022 in Journal of Human Genetics

Authors: Annalisa Paparella | Gabriella Maria Squeo | Eleonora Di Venere | Erica Cardea | Tommaso Mazza | Stefano Castellana | Jennifer Kerkhof | Haley McConkey | Bekim Sadikovic | Lorenzo Sinibaldi | Maria Cristina Digilio | Giuseppe Merla

https://doi.org/10.1038/s10038-022-01043-y Actions

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

https://doi.org/10.1038/jhg.2010.56 Actions

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

https://doi.org/10.1038/jhg.2013.103 Actions

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

https://doi.org/10.1038/s10038-017-0385-8 Actions

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

https://doi.org/10.1007/s10038-006-0365-x Actions

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

https://doi.org/10.1038/s10038-023-01145-1 Actions

Functional insight into a neurodevelopmental disorder caused by missense variants in an RNA-binding protein, RBM10

JOURNAL ARTICLE published September 2023 in Journal of Human Genetics

Authors: Eri Imagawa | Latisha Moreta | Vinod K. Misra | Claire Newman | Tsuyoshi Konuma | Kimihiko Oishi

https://doi.org/10.1038/s10038-023-01162-0 Actions

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

https://doi.org/10.1038/s10038-023-01181-x Actions
Feedback: support@crossref.org