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donderdag 27 juli 2017

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

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Human Genome Variation

Table of Contents: July 2017

Brief Communication | 27 July 2017

A Brazilian case of Bernard–Soulier syndrome with two distinct founder mutations

Kenji Kanda, Shinji Kunishima, Aya Sato, Daisuke Abe, Setsuko Nishijima et al.

Human Genome Variation 4, Article number: 17030 | doi:10.1038/hgv.2017.30

Article | 27 July 2017

Deep sequencing reveals variations in somatic cell mosaic mutations between monozygotic twins with discordant psychiatric disease

Yoshiro Morimoto, Shinji Ono, Akira Imamura, Yuji Okazaki, Akira Kinoshita et al.

Human Genome Variation 4, Article number: 17032 | doi:10.1038/hgv.2017.32

Brief Communication | 20 July 2017

A 15q14 microdeletion involving MEIS2 identified in a patient with autism spectrum disorder

Keiko Shimojima, Yumiko Ondo, Nobuhiko Okamoto & Toshiyuki Yamamoto

Human Genome Variation 4, Article number: 17029 | doi:10.1038/hgv.2017.29

Brief Communication | 06 July 2017

A novel three-base duplication, E243dup, of GFAP identified in a patient with Alexander disease

Rei Yasuda, Tomokatsu Yoshida, Ikuko Mizuta, Masanori Nakagawa & Toshiki Mizuno

Human Genome Variation 4, Article number: 17028 | doi:10.1038/hgv.2017.28

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