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donderdag 29 juni 2017

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

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Human Genome Variation

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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

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