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Showing results for ISSN matching 1434-5161

Papuan mitochondrial genomes and the settlement of Sahul

JOURNAL ARTICLE published October 2020 in Journal of Human Genetics

Authors: Nicole Pedro | Nicolas Brucato | Veronica Fernandes | Mathilde André | Lauri Saag | William Pomat | Céline Besse | Anne Boland | Jean-François Deleuze | Chris Clarkson | Herawati Sudoyo | Mait Metspalu | Mark Stoneking | Murray P. Cox | Matthew Leavesley | Luisa Pereira | François-Xavier Ricaut

https://doi.org/10.1038/s10038-020-0781-3 Actions

Paleolithic genetic link between Southern China and Mainland Southeast Asia revealed by ancient mitochondrial genomes

JOURNAL ARTICLE published December 2020 in Journal of Human Genetics

Research funded by National Natural Science Foundation of China (91731303,41925009,41630102) | Chinese Academy of Sciences (XDB26000000)

Authors: Fan Bai | Xinglong Zhang | Xueping Ji | Peng Cao | Xiaotian Feng | Ruowei Yang | Minsheng Peng | Shuwen Pei | Qiaomei Fu

https://doi.org/10.1038/s10038-020-0796-9 Actions

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

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

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

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

Biochemical data in ornithine transcarbamylase deficiency (OTCD) carrier risk estimation: logistic discrimination and combination with genetic information

JOURNAL ARTICLE published March 2006 in Journal of Human Genetics

Authors: Konrad Oexle

https://doi.org/10.1007/s10038-005-0345-6 Actions

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

https://doi.org/10.1007/s10038-006-0371-z Actions
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