Metadata Search Funding Data Link References Status API Help
Facet browsing currently unavailable
Page 4 of 3516 results
Sort by: relevance publication year
Showing results for ISSN matching 1434-5161

Spinocerebellar ataxias in Venezuela: genetic epidemiology and their most likely ethnic descent

JOURNAL ARTICLE published March 2016 in Journal of Human Genetics

Authors: Irene Paradisi | Vassiliki Ikonomu | Sergio Arias

https://doi.org/10.1038/jhg.2015.131 Actions

Norrbottnian clinical variant of Gaucher disease in Southern Italy

JOURNAL ARTICLE published April 2017 in Journal of Human Genetics

Authors: Simona Sestito | Mirella Filocamo | Ferdinando Ceravolo | Francesca Falvo | Michele Grisolia | Maria Teresa Moricca | Renato Cantaffa | Serena Grossi | Pietro Strisciuglio | Daniela Concolino

https://doi.org/10.1038/jhg.2016.158 Actions

Detecting disease association with rare variants in case-parents studies

JOURNAL ARTICLE published May 2017 in Journal of Human Genetics

Authors: Yu-Mei Li | Yang Xiang

https://doi.org/10.1038/jhg.2017.1 Actions

A de novo 1q23.3-q24.2 deletion combined with a GORAB missense mutation causes a distinctive phenotype with cutis laxa

JOURNAL ARTICLE published February 2017 in Journal of Human Genetics

Authors: Mohammed Al-Bughaili | Teresa M Neuhann | Ricarda Flöttmann | Stefan Mundlos | Malte Spielmann | Uwe Kornak | Björn Fischer-Zirnsak

https://doi.org/10.1038/jhg.2016.111 Actions

The apolipoprotein CIII T2854G variants are associated with postprandial triacylglycerol concentrations in normolipidemic Korean men

JOURNAL ARTICLE published November 2003 in Journal of Human Genetics

Authors: Sang-Koo Woo | Hyun-Sik Kang

https://doi.org/10.1007/s10038-003-0074-7 Actions

Survey of motivation to participate in a birth cohort

JOURNAL ARTICLE published September 2016 in Journal of Human Genetics

Authors: Midori Yamamoto | Misuzu Fujita | Chisato Mori | Akira Hata

https://doi.org/10.1038/jhg.2016.60 Actions

Precise mapping of 17 deletion breakpoints within the central hotspot deletion region (introns 50 and 51) of the DMD gene

JOURNAL ARTICLE published December 2017 in Journal of Human Genetics

Authors: Gabriella Esposito | Maria Roberta Tremolaterra | Evelina Marsocci | Igor CM Tandurella | Tiziana Fioretti | Maria Savarese | Antonella Carsana

https://doi.org/10.1038/jhg.2017.84 Actions

Transduction of fibroblasts and CD34+ progenitors using a selectable retroviral vector containing cDNAs encoding arylsulfatase A and CD24

JOURNAL ARTICLE published January 2000 in Journal of Human Genetics

Authors: Arisa Tsutsuda-Asano | Makoto Migita | Kumi Takahashi | Takashi Shimada

https://doi.org/10.1007/s100380050004 Actions

A rapid and simple method for sex identification by heteroduplex analysis, using denaturing high-performance liquid chromatography (DHPLC)

JOURNAL ARTICLE published April 2001 in Journal of Human Genetics

Authors: T. Shinka | T. Naroda | T. Tamura | K. Sasahara | Y. Nakahori

https://doi.org/10.1007/s100380170076 Actions

X-chromosome inactivation in the human trophoblast of early pregnancy

JOURNAL ARTICLE published May 2000 in Journal of Human Genetics

Authors: S. Uehara | M. Tamura | M. Nata | G. Ji | N. Yaegashi | K. Okamura | A. Yajima

https://doi.org/10.1007/s100380050197 Actions

Association of an intronic haplotype of the LIPC gene with hyperalphalipoproteinemia in two independent populations

JOURNAL ARTICLE published March 2008 in Journal of Human Genetics

Authors: Hiroshi Iijima | Mitsuru Emi | Manabu Wada | Makoto Daimon | Sayumi Toriyama | Satoru Koyano | Hidenori Sato | Paul N. Hopkins | Steven C. Hunt | Isao Kubota | Sumio Kawata | Takeo Kato

https://doi.org/10.1007/s10038-007-0236-0 Actions

A limited spectrum of phenylalanine hydroxylase mutations is observed in phenylketonuria patients in western Poland and implications for treatment with 6R tetrahydrobiopterin

JOURNAL ARTICLE published June 2009 in Journal of Human Genetics

Authors: Steven F Dobrowolski | K Borski | C C Ellingson | R Koch | H L Levy | E W Naylor

https://doi.org/10.1038/jhg.2009.37 Actions

Genome-wide association study suggested copy number variation may be associated with body mass index in the Chinese population

JOURNAL ARTICLE published April 2009 in Journal of Human Genetics

Authors: Bao-Yong Sha | Tie-Lin Yang | Lan-Juan Zhao | Xiang-Ding Chen | Yan Guo | Yuan Chen | Feng Pan | Zhi-Xin Zhang | Shan-Shan Dong | Xiang-Hong Xu | Hong-Wen Deng

https://doi.org/10.1038/jhg.2009.10 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

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

Genetics of congenital heart disease: the contribution of the noncoding regulatory genome

JOURNAL ARTICLE published January 2016 in Journal of Human Genetics

Authors: Alex V Postma | Connie R Bezzina | Vincent M Christoffels

https://doi.org/10.1038/jhg.2015.98 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
Feedback: support@crossref.org