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donderdag 27 april 2017

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

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Human Genome Variation

Table of Contents: April 2017

Article | 27 April 2017

Germline and somatic genetic changes in multicentric tumors obtained from a patient with multiple endocrine neoplasia type 1

Akane Naruoka, Sumiko Ohnami, Takeshi Nagashima, Masakuni Serizawa, Keiichi Ohshima et al.

Human Genome Variation 4, Article number: 17013 | doi:10.1038/hgv.2017.13

Brief Communication | 20 April 2017

Three novel BMPR2 mutations associated with advanced pulmonary arterial hypertension

Hironori Hara, Norifumi Takeda, Hiroyuki Morita, Masaru Hatano, Eisuke Amiya et al.

Human Genome Variation 4, Article number: 17010 | doi:10.1038/hgv.2017.10

Brief Communication | 13 April 2017

Small copy-number variations involving genes of the FGF pathway in differences in sex development

Andrew Hagan & Ina E Amarillo

Human Genome Variation 4, Article number: 17011 | doi:10.1038/hgv.2017.11

Brief Communication | 13 April 2017

A novel PEX1 mutation in a Moroccan family with Zellweger spectrum disorders

Amale Bousfiha, Amina Bakhchane, Hicham Charoute, Zied Riahi, Khalid Snoussi et al.

Human Genome Variation 4, Article number: 17009 | doi:10.1038/hgv.2017.9

Brief Communication | 13 April 2017

Syndromic disorder of sex development due to a novel hemizygous mutation in the carboxyl-terminal domain of ATRX

Masaki Takagi, Hiroko Yagi, Ryuji Fukuzawa, Satoshi Narumi & Tomonobu Hasegawa

Human Genome Variation 4, Article number: 17012 | doi:10.1038/hgv.2017.12

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