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Showing results for ISSN matching 2054-345X

A delayed diagnosis of Pallister-Hall syndrome in an adult male following the incidental detection of a hypothalamic hamartoma

JOURNAL ARTICLE published 12 November 2018 in Human Genome Variation

Research funded by MOH | National Medical Research Council (NMRC/CSA-INV/0017/2017)

Authors: Eliza Courtney | Du Soon Swee | Diana Ishak | Joanne Ngeow

https://doi.org/10.1038/s41439-018-0031-9 Actions

GRIA3 p.Met661Thr variant in a female with developmental epileptic encephalopathy

JOURNAL ARTICLE published 2 February 2023 in Human Genome Variation

Authors: Satomi Okano | Yoshio Makita | Akie Miyamoto | Genya Taketazu | Kayano Kimura | Ikue Fukuda | Hajime Tanaka | Kumiko Yanagi | Tadashi Kaname

https://doi.org/10.1038/s41439-023-00232-1 Actions

A novel missense mutation of COL5A2 in a patient with Ehlers–Danlos syndrome

JOURNAL ARTICLE published 15 September 2016 in Human Genome Variation

Authors: Miki Watanabe | Ryuji Nakagawa | Takuya Naruto | Tomohiro Kohmoto | Ken-ichi Suga | Aya Goji | Shoji Kagami | Kiyoshi Masuda | Issei Imoto

https://doi.org/10.1038/hgv.2016.30 Actions

Infantile spasms related to a 5q31.2-q31.3 microdeletion including PURA

JOURNAL ARTICLE published 29 March 2018 in Human Genome Variation

Authors: Keiko Shimojima | Nobuhiko Okamoto | Kayo Ohmura | Hiroaki Nagase | Toshiyuki Yamamoto

https://doi.org/10.1038/hgv.2018.7 Actions

A novel PITX2 mutation causing iris hypoplasia

JOURNAL ARTICLE published 31 July 2014 in Human Genome Variation

Authors: Masashi Kimura | Yoshihito Tokita | Junichiro Machida | Akio Shibata | Tadashi Tatematsu | Yoshinori Tsurusaki | Noriko Miyake | Hirotomo Saitsu | Hitoshi Miyachi | Kazuo Shimozato | Naomichi Matsumoto | Mitsuko Nakashima

https://doi.org/10.1038/hgv.2014.5 Actions

Precocious puberty in a case of Simpson–Golabi–Behmel syndrome with a de novo 240-kb deletion including GPC3

JOURNAL ARTICLE published 9 June 2022 in Human Genome Variation

Authors: Keisuke Watanabe | Atsuko Noguchi | Ikuko Takahashi | Mamiko Yamada | Hisato Suzuki | Toshiki Takenouchi | Kenjiro Kosaki | Tsutomu Takahashi

https://doi.org/10.1038/s41439-022-00196-8 Actions

The ATRX splicing variant c.21-1G>A is asymptomatic

JOURNAL ARTICLE published 14 September 2022 in Human Genome Variation

Authors: Karin Kojima | Takahito Wada | Hiroko Shimbo | Takahiro Ikeda | Eriko F. Jimbo | Hirotomo Saitsu | Naomichi Matsumoto | Takanori Yamagata

https://doi.org/10.1038/s41439-022-00212-x Actions

Rare single-nucleotide DAB1 variants and their contribution to Schizophrenia and autism spectrum disorder susceptibility

JOURNAL ARTICLE published 10 November 2020 in Human Genome Variation

Research funded by Japan Agency for Medical Research and Development (JP18dm0107087,JP18dm0207005,JP18dk0307075,JP18dk0307081)

Authors: Yoshihiro Nawa | Hiroki Kimura | Daisuke Mori | Hidekazu Kato | Miho Toyama | Sho Furuta | Yanjie Yu | Kanako Ishizuka | Itaru Kushima | Branko Aleksic | Yuko Arioka | Mako Morikawa | Takashi Okada | Toshiya Inada | Kozo Kaibuchi | Masashi Ikeda | Nakao Iwata | Michio Suzuki | Yuko Okahisa | Jun Egawa | Toshiyuki Someya | Fumichika Nishimura | Tsukasa Sasaki | Norio Ozaki

https://doi.org/10.1038/s41439-020-00125-7 Actions

An MSH6 germline pathogenic variant p.Gly162Ter associated with Lynch syndrome

JOURNAL ARTICLE published 26 October 2022 in Human Genome Variation

Authors: Olga A. Vostrukhina | Elena D. Mirlina | Darya N. Khmelkova | Galina M. Butrovich | Alexandra D. Shakhmatova | Yury V. Kil | Yliya L. Polyatskin | Anna S. Artemyeva | Alexey V. Gulyaev | Valery N. Verbenko

https://doi.org/10.1038/s41439-022-00216-7 Actions

Hyperprolinemia type I caused by homozygous p.T466M mutation in PRODH

JOURNAL ARTICLE published 20 July 2021 in Human Genome Variation

Authors: Rina Hama | Jun Kido | Keishin Sugawara | Toshiro Nakamura | Kimitoshi Nakamura

https://doi.org/10.1038/s41439-021-00159-5 Actions

Novel PAX6 mutation reported in an aniridia patient

JOURNAL ARTICLE published 7 December 2017 in Human Genome Variation

Authors: Andrew Winegarner | Yoshinori Oie | Satoshi Kawasaki | Nozomi Nishida | Kohji Nishida

https://doi.org/10.1038/hgv.2017.53 Actions

HLA-A*02:06 and PTGER3 polymorphism exert additive effects in cold medicine-related Stevens–Johnson syndrome with severe ocular complications

JOURNAL ARTICLE published 16 July 2015 in Human Genome Variation

Authors: Mayumi Ueta | Katsushi Tokunaga | Chie Sotozono | Hiromi Sawai | Kyung-Chul Yoon | Mee Kum Kim | Kyoung Yul Seo | Choun-Ki Joo | Kei Tashiro | Shigeru Kinoshita

https://doi.org/10.1038/hgv.2015.23 Actions

Phenotypes of a family with XLH with a novel PHEX mutation

JOURNAL ARTICLE published 31 March 2020 in Human Genome Variation

Authors: Akiko Yamamoto | Toshiro Nakamura | Yasuhisa Ohata | Takuo Kubota | Keiichi Ozono

https://doi.org/10.1038/s41439-020-0095-1 Actions

The first Japanese patient with mandibular hypoplasia, deafness, progeroid features and lipodystrophy diagnosed via POLD1 mutation detection

JOURNAL ARTICLE published 3 August 2017 in Human Genome Variation

Authors: Asami Okada | Tomohiro Kohmoto | Takuya Naruto | Ichiro Yokota | Yumiko Kotani | Aki Shimada | Yoko Miyamoto | Rizu Takahashi | Aya Goji | Kiyoshi Masuda | Shoji Kagami | Issei Imoto

https://doi.org/10.1038/hgv.2017.31 Actions

A novel nonsense variant in ARID1B causing simultaneous RNA decay and exon skipping is associated with Coffin-Siris syndrome

JOURNAL ARTICLE published 25 July 2022 in Human Genome Variation

Authors: Viktoriia Sofronova | Yu Fukushima | Mitsuo Masuno | Mami Naka | Miho Nagata | Yasuki Ishihara | Yohei Miyashita | Yoshihiro Asano | Takahito Moriwaki | Rina Iwata | Seigo Terawaki | Yasuko Yamanouchi | Takanobu Otomo

https://doi.org/10.1038/s41439-022-00203-y Actions

A novel DARS2 mutation in a Japanese patient with leukoencephalopathy with brainstem and spinal cord involvement but no lactate elevation

JOURNAL ARTICLE published 9 November 2017 in Human Genome Variation

Authors: Keiko Shimojima | Takafumi Higashiguchi | Kanako Kishimoto | Satoko Miyatake | Noriko Miyake | Jun-ichi Takanashi | Naomichi Matsumoto | Toshiyuki Yamamoto

https://doi.org/10.1038/hgv.2017.51 Actions

An unclassified variant of CHD7 activates a cryptic splice site in a patient with CHARGE syndrome

JOURNAL ARTICLE published 8 March 2018 in Human Genome Variation

Authors: Yuko Katoh-Fukui | Shuichi Yatsuga | Hirohito Shima | Atsushi Hattori | Akie Nakamura | Kohji Okamura | Kumiko Yanagi | Manami Iso | Tadashi Kaname | Yoichi Matsubara | Maki Fukami

https://doi.org/10.1038/hgv.2018.6 Actions

Novel TFAP2A mutation in a Japanese family with Branchio-oculo-facial syndrome

JOURNAL ARTICLE published 10 May 2018 in Human Genome Variation

Authors: Taisuke Sato | Osamu Samura | Noriko Kato | Kosuke Taniguchi | Ken Takahashi | Yuki Ito | Hiroaki Aoki | Masahisa Kobayashi | Ohsuke Migita | Aikou Okamoto | Kenichiro Hata

https://doi.org/10.1038/s41439-018-0004-z Actions

Arthrogryposis multiplex congenita with polymicrogyria and infantile encephalopathy caused by a novel GRIN1 variant

JOURNAL ARTICLE published 25 September 2020 in Human Genome Variation

Authors: Naoto Nishimura | Tatsuro Kumaki | Hiroaki Murakami | Yumi Enomoto | Kaoru Katsumata | Katsuaki Toyoshima | Kenji Kurosawa

https://doi.org/10.1038/s41439-020-00116-8 Actions

Clinical manifestations in two patients with pyruvate dehydrogenase deficiency and long-term survival

JOURNAL ARTICLE published 1 June 2017 in Human Genome Variation

Authors: Takanobu Yoshida | Jun Kido | Hiroshi Mitsubuchi | Shirou Matsumoto | Fumio Endo | Kimitoshi Nakamura

https://doi.org/10.1038/hgv.2017.20 Actions
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