Metadata Search Funding Data Link References Status API Help
Facet browsing currently unavailable
Page 4 of 451 results
Sort by: relevance publication year
Showing results for ISSN matching 2054-345X

Pathway activation strength is a novel independent prognostic biomarker for cetuximab sensitivity in colorectal cancer patients

JOURNAL ARTICLE published 2 April 2015 in Human Genome Variation

Authors: Qingsong Zhu | Evgeny Izumchenko | Alexander M Aliper | Evgeny Makarev | Keren Paz | Anton A Buzdin | Alex A Zhavoronkov | David Sidransky

https://doi.org/10.1038/hgv.2015.9 Actions

A novel loss-of-function mutation in HACE1 is linked to a genetic disorder in a patient from India

JOURNAL ARTICLE published 8 February 2018 in Human Genome Variation

Authors: Nivedita Hariharan | Samathmika Ravi | Bulagonda Eswarappa Pradeep | Koushik Narayan Subramanyam | Bibha Choudhary | Subhashini Srinivasan | Prakash Khanchandani

https://doi.org/10.1038/hgv.2017.61 Actions

Genetic variability in COVID-19-related genes in the Brazilian population

JOURNAL ARTICLE published 2 April 2021 in Human Genome Variation

Research funded by Fundação de Amparo à Pesquisa do Estado de São Paulo (2013/07559-3,2019/08526-8,2017/01900-6) | Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (001)

Authors: Rodrigo Secolin | Tânia K. de Araujo | Marina C. Gonsales | Cristiane S. Rocha | Michel Naslavsky | Luiz De Marco | Maria A. C. Bicalho | Vinicius L. Vazquez | Mayana Zatz | Wilson A. Silva | Iscia Lopes-Cendes

https://doi.org/10.1038/s41439-021-00146-w Actions

Structural basis of ethnic-specific variants of PAX4 associated with type 2 diabetes

JOURNAL ARTICLE published 5 July 2021 in Human Genome Variation

Research funded by Japan Agency for Medical Research and Development (18km0405202h0003,18km0405202h0003,18km0405202h0003,18km0405202h0003,18km0405202h0003,18km0405202h0003,18km0405202h0003,18km0405202h0003,18km0405202h0003) | Ministry of Education, Culture, Sports, Science and Technology (19K16534)

Authors: Jun Hosoe | Ken Suzuki | Fuyuki Miya | Takashi Kato | Tatsuhiko Tsunoda | Yukinori Okada | Momoko Horikoshi | Nobuhiro Shojima | Toshimasa Yamauchi | Takashi Kadowaki

https://doi.org/10.1038/s41439-021-00156-8 Actions

Clinical impacts of genomic copy number gains at Xq28

JOURNAL ARTICLE published 24 July 2014 in Human Genome Variation

Authors: Toshiyuki Yamamoto | Keiko Shimojima | Shino Shimada | Kenji Yokochi | Shinsaku Yoshitomi | Keiko Yanagihara | Katsumi Imai | Nobuhiko Okamoto

https://doi.org/10.1038/hgv.2014.1 Actions

Exonic deletions in GALC are frequent in Japanese globoid-cell leukodystrophy patients

JOURNAL ARTICLE published 5 October 2018 in Human Genome Variation

Authors: Kaori Irahara-Miyana | Takashi Enokizono | Keiichi Ozono | Norio Sakai

https://doi.org/10.1038/s41439-018-0027-5 Actions

Syndromic disorder of sex development due to a novel hemizygous mutation in the carboxyl-terminal domain of ATRX

JOURNAL ARTICLE published 13 April 2017 in Human Genome Variation

Authors: Masaki Takagi | Hiroko Yagi | Ryuji Fukuzawa | Satoshi Narumi | Tomonobu Hasegawa

https://doi.org/10.1038/hgv.2017.12 Actions

NF1 with 47,XYY mosaicism diagnosed by mandibular neurofibromas

JOURNAL ARTICLE published 16 May 2024 in Human Genome Variation

Authors: Erina Tonouchi | Kei-ichi Morita | Yosuke Harazono | Kyoko Hoshino | Tetsuya Yoda

https://doi.org/10.1038/s41439-024-00279-8 Actions

Novel USP9X variants in two patients with X-linked intellectual disability

JOURNAL ARTICLE published 21 October 2019 in Human Genome Variation

Research funded by Japan Agency for Medical Research and Development (18kk02050h003)

Authors: Yoshinori Tsurusaki | Yukiko Kuroda | Yasuko Yamanouchi | Eisuke Kondo | Kazunobu Ouchi | Yuichi Kimura | Yumi Enomoto | Noriko Aida | Mitsuo Masuno | Kenji Kurosawa

https://doi.org/10.1038/s41439-019-0081-7 Actions

Prevalence of pharmacogenomic variants in 100 pharmacogenes among Southeast Asian populations under the collaboration of the Southeast Asian Pharmacogenomics Research Network (SEAPharm)

JOURNAL ARTICLE published 4 February 2021 in Human Genome Variation

Research funded by Thailand Research Fund (IRN60W0003,IRN60W0003,IRN60W0003)

Authors: Chakkaphan Runcharoen | Koya Fukunaga | Insee Sensorn | Nareenart Iemwimangsa | Sommon Klumsathian | Hang Tong | Nam Sy Vo | Ly Le | Tin Maung Hlaing | Myo Thant | Shamsul Mohd Zain | Zahurin Mohamed | Yuh-Fen Pung | Francis Capule | Jose Nevado | Catherine Lynn Silao | Zeina N. Al-Mahayri | Bassam R. Ali | Rika Yuliwulandari | Kinasih Prayuni | Hilyatuz Zahroh | Dzul Azri Mohamed Noor | Phonepadith Xangsayarath | Dalouny Xayavong | Sengchanh Kounnavong | Somphou Sayasone | Zoe Kordou | Ioannis Liopetas | Athina Tsikrika | Evangelia-Eirini Tsermpini | Maria Koromina | Christina Mitropoulou | George P. Patrinos | Aumpika Kesornsit | Angkana Charoenyingwattana | Sukanya Wattanapokayakit | Surakameth Mahasirimongkol | Taisei Mushiroda | Wasun Chantratita

https://doi.org/10.1038/s41439-021-00135-z Actions

Clinical and genetic characteristics of 14 patients from 13 Japanese families with RPGR-associated retinal disorder: report of eight novel variants

JOURNAL ARTICLE published 2 August 2019 in Human Genome Variation

Authors: Go Mawatari | Kaoru Fujinami | Xiao Liu | Lizhu Yang | Yu-Fujinami Yokokawa | Shiori Komori | Shinji Ueno | Hiroko Terasaki | Satoshi Katagiri | Takaaki Hayashi | Kazuki Kuniyoshi | Yozo Miyake | Kazushige Tsunoda | Kazutoshi Yoshitake | Takeshi Iwata | Nobuhisa Nao-i | on behalf of the JEGC study group

https://doi.org/10.1038/s41439-019-0065-7 Actions

Predominant cerebellar phenotype in spastic paraplegia 7 (SPG7)

JOURNAL ARTICLE published 26 March 2015 in Human Genome Variation

Authors: Hiroyuki Yahikozawa | Kunihiro Yoshida | Shunichi Sato | Norinao Hanyu | Hiroshi Doi | Satoko Miyatake | Naomichi Matsumoto

https://doi.org/10.1038/hgv.2015.12 Actions

A novel mutation in the β-spectrin gene causes the activation of a cryptic 5′-splice site and the creation of a de novo 3′-splice site

JOURNAL ARTICLE published 27 August 2015 in Human Genome Variation

Authors: Pilar Carrasco Salas | José Miguel Lezana Rosales | Carmen Palma Milla | Javier López Montiel | Juan López Siles

https://doi.org/10.1038/hgv.2015.29 Actions

A novel ETFB mutation in a patient with glutaric aciduria type II

JOURNAL ARTICLE published 18 June 2015 in Human Genome Variation

Authors: Yosuke Sudo | Ayako Sasaki | Takashi Wakabayashi | Chikahiko Numakura | Kiyoshi Hayasaka

https://doi.org/10.1038/hgv.2015.16 Actions

A new sister journal to the Journal of Human Genetics—for the interest and benefit of the global community of human genome researchers

JOURNAL ARTICLE published 24 July 2014 in Human Genome Variation

Authors: Katsushi Tokunaga

https://doi.org/10.1038/hgv.2014.3 Actions

A Japanese hereditary spastic paraplegia family with a rare nonsynonymous variant in the SPAST gene

JOURNAL ARTICLE published 25 May 2021 in Human Genome Variation

Authors: Takuya Morikawa | Shiroh Miura | Takahisa Tateishi | Kazuhito Noda | Hiroki Shibata

https://doi.org/10.1038/s41439-021-00153-x Actions

Human Genome Variation

JOURNAL published

https://doi.org/10.1038/41439.2054-345x Actions

Novel COL2A1 variants in Japanese patients with spondyloepiphyseal dysplasia congenita

JOURNAL ARTICLE published 17 May 2022 in Human Genome Variation

Authors: Moe Akahira-Azuma | Yumi Enomoto | Naoyuki Nakamura | Takayuki Yokoi | Mari Minatogawa | Noriaki Harada | Yoshinori Tsurusaki | Kenji Kurosawa

https://doi.org/10.1038/s41439-022-00193-x Actions

Somatic mosaicism of EPAS1 mutations in the syndrome of paraganglioma and somatostatinoma associated with polycythemia

JOURNAL ARTICLE published 10 December 2015 in Human Genome Variation

Authors: Chunzhang Yang | Christopher S Hong | Josef T Prchal | Melina T Balint | Karel Pacak | Zhengping Zhuang

https://doi.org/10.1038/hgv.2015.53 Actions

(Epi)genetic defects of MKRN3 are rare in Asian patients with central precocious puberty

JOURNAL ARTICLE published 21 January 2019 in Human Genome Variation

Research funded by MEXT | Japan Society for the Promotion of Science (17H06428, 18K16249) | Japan Agency for Medical Research and Development (17ek0109266h0001; 17ek0109278h0001) | National Center for Child Health and Development (26-11)

Authors: Erina Suzuki | Hirohito Shima | Masayo Kagami | Shun Soneda | Toshiaki Tanaka | Shuichi Yatsuga | Junko Nishioka | Yuji Oto | Toshiya Kamiya | Yasuhiro Naiki | Tsutomu Ogata | Yasuko Fujisawa | Akie Nakamura | Sayaka Kawashima | Shuntaro Morikawa | Reiko Horikawa | Shinichiro Sano | Maki Fukami

https://doi.org/10.1038/s41439-019-0039-9 Actions
Feedback: support@crossref.org