We bring you the latest news from the healthcare about the health care in the United Kingdom. Do your have news for us? Contact the editor. Watch also this special movie.

donderdag 29 juni 2017

Human Genome Variation - Table of Contents alert Volume 4, May 2017

If you are unable to see the message below, click here to view.
Human Genome Variation

Human Genome Variation (HGV) is an online, open access journal with accompanying database. Submit your next manuscript to Human Genome Variation and benefit from:
- Quality peer-review and fast decision times
- High visibility for your research
- Now included within PubMed
- Article Processing Charge for Data Reports now waived 

Learn more >>

Table of Contents: June 2017

Brief Communication | 29 June 2017

Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family

Dezhong Chen, Na Zhao, Jing Wang, Zhuoyu Li, Changxin Wu et al.

Human Genome Variation 4, Article number: 17027 | doi:10.1038/hgv.2017.27

Article | 15 June 2017

The detection of a novel insertion mutation in exon 2 of the MEFV gene associated with familial mediterranean fever in a moroccan family

Touhami Mejtoute, Hanane Sayel, Jamila El-Akhal, Fatima Z. Moufid, Laila Bouguenouch et al.

Human Genome Variation 4, Article number: 17023 | doi:10.1038/hgv.2017.23

Brief Communication | 08 June 2017

A novel UBE2A mutation causes X-linked intellectual disability type Nascimento

Yoshinori Tsurusaki, Ikuko Ohashi, Yumi Enomoto, Takuya Naruto, Jun Mitsui et al.

Human Genome Variation 4, Article number: 17019 | doi:10.1038/hgv.2017.19

Brief Communication | 08 June 2017

PCS/MVA syndrome caused by an Alu insertion in the BUB1B gene

Maki Kato, Takema Kato, Eriko Hosoba, Masanao Ohashi, Midori Fujisaki et al.

Human Genome Variation 4, Article number: 17021 | doi:10.1038/hgv.2017.21

Brief Communication | 01 June 2017

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

Takanobu Yoshida, Jun Kido, Hiroshi Mitsubuchi, Shirou Matsumoto, Fumio Endo et al.

Human Genome Variation 4, Article number: 17020 | doi:10.1038/hgv.2017.20

Brief Communication | 01 June 2017

A novel mutation of NFIX causes Sotos-like syndrome (Malan syndrome) complicated with thoracic aortic aneurysm and dissection

Tsukasa Oshima, Hironori Hara, Norifumi Takeda, Eriko Hasumi, Yukiko Kuroda et al.

Human Genome Variation 4, Article number: 17022 | doi:10.1038/hgv.2017.22

Your email address is in the Human Genome Variation mailing list.
You have been sent this alert because you have opted in to receive it. You can change or discontinue your e-mail alerts at any time, by modifying your preferences on your nature.com account at: myaccount (You will need to log in to be recognised as a nature.com registrant)
For further technical assistance, please contact our registration department
For print subscription enquiries, please contact our subscription department
For other enquiries, please contact our customer feedback department
Springer Nature | One New York Plaza, Suite 4500 | New York | NY 10004-1562 | USA
Springer Nature's worldwide offices:
London - Paris - Munich - New Delhi - Tokyo - Melbourne
San Diego - San Francisco - Washington - New York - Boston
Macmillan Publishers Limited is a company incorporated in England and Wales under company number 785998 and whose registered office is located at The Campus, 4 Crinan Street, London, N1 9XW.
© 2017 Macmillan Publishers Limited, part of Springer Nature. All rights reserved.
Springer Nature