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Showing results for ISSN matching 1434-5161

Recontact: a survey of current practices and BRCA1/2 testing in Japan

JOURNAL ARTICLE published August 2023 in Journal of Human Genetics

Authors: Tomohiro Sakaguchi | Tomoharu Tokutomi | Akiko Yoshida | Kayono Yamamoto | Keiko Obata | Daniele Carrieri | Susan E. Kelly | Akimune Fukushima

https://doi.org/10.1038/s10038-023-01149-x Actions

Verification and rectification of cell type-specific splicing of a Seckel syndrome-associated ATR mutation using iPS cell model

JOURNAL ARTICLE published May 2019 in Journal of Human Genetics

Research funded by MEXT | Japan Society for the Promotion of Science (16673093,17J08574) | Japan Agency for Medical Research and Development (17935244)

Authors: Jose Ichisima | Naoya M. Suzuki | Bumpei Samata | Tomonari Awaya | Jun Takahashi | Masatoshi Hagiwara | Tatsutoshi Nakahata | Megumu K. Saito

https://doi.org/10.1038/s10038-019-0574-8 Actions

Deletions, not duplications or small mutations, are the predominante new mutations in the dystrophin gene

JOURNAL ARTICLE published October 2017 in Journal of Human Genetics

Authors: Janusz G Zimowski | Magdalena Pawelec | Joanna K Purzycka | Walentyna Szirkowiec | Jacek Zaremba

https://doi.org/10.1038/jhg.2017.70 Actions

Incidence and clinical importance of BCR-ABL1 mutations in Iranian patients with chronic myeloid leukemia on imatinib

JOURNAL ARTICLE published May 2015 in Journal of Human Genetics

Authors: Golale Rostami | Mohammad Hamid | Majid Yaran | Mohsen Khani | Morteza Karimipoor

https://doi.org/10.1038/jhg.2015.11 Actions

Siblings with optic neuropathy and RTN4IP1 mutation

JOURNAL ARTICLE published October 2017 in Journal of Human Genetics

Authors: Nobuhiko Okamoto | Fuyuki Miya | Yoshikazu Hatsukawa | Yasuhiro Suzuki | Kazumi Kawato | Yuto Yamamoto | Tatsuhiko Tsunoda | Mitsuhiro Kato | Shinji Saitoh | Mami Yamasaki | Yonehiro Kanemura | Kenjiro Kosaki

https://doi.org/10.1038/jhg.2017.68 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

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

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

Four single-nucleotide polymorphisms in the human BUB1 gene

JOURNAL ARTICLE published 19 March 2001 in Journal of Human Genetics

Authors: T. Kanbe | T. Nobukuni | H. Kawasaki | T. Sekiya | Y. Murakami

https://doi.org/10.1007/s100380170103 Actions

ALG3-CDG: lethal phenotype and novel variants in Chinese siblings

JOURNAL ARTICLE published December 2020 in Journal of Human Genetics

Authors: Yue Bian | Chong Qiao | ShuGuang Zheng | Hao Qiu | Huan Li | ZhiTao Zhang | ShaoWei Yin | HongKun Jiang | Jesse Li-Ling | CaiXia Liu | Yuan Lyu

https://doi.org/10.1038/s10038-020-0798-7 Actions

WDR34 mutation from anencephaly patients impaired both SHH and PCP signaling pathways

JOURNAL ARTICLE published November 2020 in Journal of Human Genetics

Research funded by National Natural Science Foundation of China (81870894,81741048)

Authors: Hailing Yin | Rui Peng | Zhongzhong Chen | Hongyan Wang | Ting Zhang | Yufang Zheng

https://doi.org/10.1038/s10038-020-0793-z Actions

De novo 617G–A nucleotide mutation in the ACVR1 gene in a Taiwanese patient with fibrodysplasia ossificans progressiva

JOURNAL ARTICLE published December 2006 in Journal of Human Genetics

Authors: Gau-Tyan Lin | Hsueh-Wei Chang | Chih-Shan Liu | Peng-Ju Huang | Hsien-Chung Wang | Yuh-Min Cheng

https://doi.org/10.1007/s10038-006-0069-2 Actions

Carrier screening for present disease prevalence and recessive genetic disorder in Taiwanese population

JOURNAL ARTICLE published April 2024 in Journal of Human Genetics

Authors: Li Shan Chen | Cheng Wei Yu | Wei Jiun Li | Wen Chi Hsieh | Yi Ping Li

https://doi.org/10.1038/s10038-023-01212-7 Actions
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