Metadata Search Funding Data Link References Status API Help
Facet browsing currently unavailable
Page 4 of 3514 results
Sort by: relevance publication year
Showing results for ISSN matching 1434-5161

Fetiform teratoma was a parthenogenetic tumor arising from a mature ovum

JOURNAL ARTICLE published September 2017 in Journal of Human Genetics

Authors: Kiyonori Miura | Takumi Kurabayashi | Chisei Satoh | Kensaku Sasaki | Tatsuya Ishiguro | Koh-ichiro Yoshiura | Hideaki Masuzaki

https://doi.org/10.1038/jhg.2017.45 Actions

A novel de novo NIPA1 missense mutation associated to hereditary spastic paraplegia

JOURNAL ARTICLE published December 2021 in Journal of Human Genetics

Authors: Dora Fabbro | Catia Mio | Federico Fogolari | Giuseppe Damante

https://doi.org/10.1038/s10038-021-00941-x Actions

A clinical and molecular study of a patient with Simpson-Golabi-Behmel syndrome

JOURNAL ARTICLE published August 1999 in Journal of Human Genetics

Authors: N. Okamoto | Makoto Yagi | Kenji Imura | Yoshinao Wada

https://doi.org/10.1007/s100380050170 Actions

Identification of 156 novel SNPs in 29 genes encoding G-protein coupled receptors

JOURNAL ARTICLE published April 2005 in Journal of Human Genetics

Authors: Aritoshi Iida | Yusuke Nakamura

https://doi.org/10.1007/s10038-005-0238-8 Actions

Tissue-specific differentially methylated regions of the human VASA gene are potentially associated with maturation arrest phenotype in the testis

JOURNAL ARTICLE published August 2009 in Journal of Human Genetics

Authors: Kazuhiro Sugimoto | Eitetsu Koh | Ho-Su Sin | Yuji Maeda | Kazutaka Narimoto | Koji Izumi | Yoshitomo Kobori | Eiko Kitamura | Hiroki Nagase | Atsumi Yoshida | Mikio Namiki

https://doi.org/10.1038/jhg.2009.59 Actions

A novel H101Q mutation causes PKCγ loss in spinocerebellar ataxia type 14

JOURNAL ARTICLE published October 2005 in Journal of Human Genetics

Authors: Isabel Alonso | Cristina Costa | André Gomes | Anabela Ferro | Ana I. Seixas | Sérgio Silva | Vitor Tedim Cruz | Paula Coutinho | Jorge Sequeiros | Isabel Silveira

https://doi.org/10.1007/s10038-005-0287-z Actions

Molecular pathogenesis of triple-negative breast cancer based on microRNA expression signatures: antitumor miR-204-5p targets AP1S3

JOURNAL ARTICLE published December 2018 in Journal of Human Genetics

Authors: Hiroko Toda | Sasagu Kurozumi | Yuko Kijima | Tetsuya Idichi | Yoshiaki Shinden | Yasutaka Yamada | Takayuki Arai | Kosei Maemura | Takaaki Fujii | Jun Horiguchi | Shoji Natsugoe | Naohiko Seki

https://doi.org/10.1038/s10038-018-0510-3 Actions

Mitochondrial DNA history of Sri Lankan ethnic people: their relations within the island and with the Indian subcontinental populations

JOURNAL ARTICLE published January 2014 in Journal of Human Genetics

Authors: Lanka Ranaweera | Supannee Kaewsutthi | Aung Win Tun | Hathaichanoke Boonyarit | Samerchai Poolsuwan | Patcharee Lertrit

https://doi.org/10.1038/jhg.2013.112 Actions

Novel compound heterozygous mutation and phenotype in the tetratricopeptide repeat-like domain of the GEMIN5 gene in two Chinese families

JOURNAL ARTICLE published November 2023 in Journal of Human Genetics

Authors: Xin Zhang | Yanzhao Guo | Lu Xu | Yilong Wang | Guoxia Sheng | Feng Gao | Zhefeng Yuan

https://doi.org/10.1038/s10038-023-01184-8 Actions

Claudin-7 indirectly regulates the integrin/FAK signaling pathway in human colon cancer tissue

JOURNAL ARTICLE published August 2016 in Journal of Human Genetics

Authors: Lei Ding | Liyong Wang | Leiming Sui | Huanying Zhao | Xiaoxue Xu | Tengyan Li | Xiaonan Wang | Wenjing Li | Ping Zhou | Lu Kong

https://doi.org/10.1038/jhg.2016.35 Actions

Empirical estimation of genome-wide significance thresholds based on the 1000 Genomes Project data set

JOURNAL ARTICLE published October 2016 in Journal of Human Genetics

Authors: Masahiro Kanai | Toshihiro Tanaka | Yukinori Okada

https://doi.org/10.1038/jhg.2016.72 Actions

The genomic landscape of human immune-mediated diseases

JOURNAL ARTICLE published November 2015 in Journal of Human Genetics

Authors: Xin Wu | Haiyan Chen | Huji Xu

https://doi.org/10.1038/jhg.2015.99 Actions

BBS8 is rarely mutated in a cohort of 128 Bardet–Biedl syndrome families

JOURNAL ARTICLE published January 2006 in Journal of Human Genetics

Authors: Corinne Stoetzel | Virginie Laurier | Laurence Faivre | André Mégarbané | Fabienne Perrin-Schmitt | Alain Verloes | Dominique Bonneau | Jean-Louis Mandel | Mireille Cossee | Hélène Dollfus

https://doi.org/10.1007/s10038-005-0320-2 Actions

Abrogation of DUSP6 by hypermethylation in human pancreatic cancer

JOURNAL ARTICLE published April 2005 in Journal of Human Genetics

Authors: Shanhai Xu | Toru Furukawa | Naomi Kanai | Makoto Sunamura | Akira Horii

https://doi.org/10.1007/s10038-005-0235-y Actions

Contemporary retrotransposition of a novel non-coding gene induces exon-skipping in dystrophin mRNA

JOURNAL ARTICLE published December 2010 in Journal of Human Genetics

Authors: Hiroyuki Awano | Rusdy Ghazali Malueka | Mariko Yagi | Yo Okizuka | Yasuhiro Takeshima | Masafumi Matsuo

https://doi.org/10.1038/jhg.2010.111 Actions

Epigenomic strategies at the interface of genetic and environmental risk factors for autism

JOURNAL ARTICLE published July 2013 in Journal of Human Genetics

Authors: Janine M LaSalle

https://doi.org/10.1038/jhg.2013.49 Actions

Carrier frequency of GJB2 gene mutations c.35delG, c.235delC and c.167delT among the populations of Eurasia

JOURNAL ARTICLE published November 2010 in Journal of Human Genetics

Authors: Lilya U Dzhemileva | Nikolay A Barashkov | Olga L Posukh | Rita I Khusainova | Vita L Akhmetova | Ildus A Kutuev | Irina R Gilyazova | Vera N Tadinova | Sardana A Fedorova | Irina M Khidiyatova | Simeon L Lobov | Elza K Khusnutdinova

https://doi.org/10.1038/jhg.2010.101 Actions

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

https://doi.org/10.1007/s10038-006-0094-1 Actions

Novel mutations in the cytochrome P450 2C19 gene: a pitfall of the PCR-RFLP method for identifying a common mutation

JOURNAL ARTICLE published February 2006 in Journal of Human Genetics

Authors: Yumiko Ohkubo | Akihito Ueta | Naoki Ando | Tetsuya Ito | Sachiko Yamaguchi | Kantaro Mizuno | Satoshi Sumi | Tohru Maeda | Daiju Yamazaki | Yukihisa Kurono | Shinji Fujimoto | Hajime Togari

https://doi.org/10.1007/s10038-005-0332-y Actions

Dent’s disease and prevalence of renal stones in dialysis patients in Northeastern Italy

JOURNAL ARTICLE published January 2006 in Journal of Human Genetics

Authors: Enrica Tosetto | Romina Graziotto | Lina Artifoni | Josef Nachtigal | Carmelo Cascone | Piero Conz | Michele Piva | Roberto Dell’Aquila | Ermanno De Paoli Vitali | Lorenzo Citron | Federico Nalesso | Augusto Antonello | Ugo Vertolli | Riccardo Zagatti | Antonio Lupo | Angela D’Angelo | Franca Anglani | Giovanni Gambaro

https://doi.org/10.1007/s10038-005-0317-x Actions
Feedback: support@crossref.org