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donderdag 23 februari 2017

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

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Human Genome Variation

Human Genome Variation

Table of Contents: February 2017

Article | 23 February 2017

Comprehensive genetic exploration of selective tooth agenesis of mandibular incisors by exome sequencing

Tetsutaro Yamaguchi, Kazuyoshi Hosomichi, Keisuke Yano, Yong-Il Kim, Hirofumi Nakaoka et al.

Human Genome Variation 4, Article number: 17005 | doi:10.1038/hgv.2017.5

Brief Communication | 16 February 2017

Pleiotropic effect of a novel mutation in GCNT2 causing congenital cataract and a rare adult i blood group phenotype

Sek-Shir Cheong, Sarah Hull, Benjamin Jones, Ravinder Chana, Nicole Thornton et al.

Human Genome Variation 4, Article number: 17004 | doi:10.1038/hgv.2017.4

Brief Communication | 16 February 2017

A new mutation found in newborn screening for Fabry disease evaluated by plasma globotriaosylsphingosine levels

Yasutsugu Chinen, Sadao Nakamura, Tomohide Yoshida, Hiroki Maruyama & Kimitoshi Nakamura

Human Genome Variation 4, Article number: 17002 | doi:10.1038/hgv.2017.2

Brief Communication | 09 February 2017

A 7q31.33q32.1 microdeletion including LRRC4 and GRM8 is associated with severe intellectual disability and characteristics of autism

Noriko Sangu, Keiko Shimojima, Yuya Takahashi, Tsukasa Ohashi, Jun Tohyama et al.

Human Genome Variation 4, Article number: 17001 | doi:10.1038/hgv.2017.1

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