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maandag 26 februari 2018

Journal of Human Genetics - Table of Contents alert Volume 63 Issue 3

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Journal of Human Genetics

Volume 63, Issue 3 (March 2018)

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Focal facial dermal dysplasia type 4: identification of novel CYP26C1 mutations in unrelated patients


Journal of Human Genetics 2017 63 :257 - 261; December 20, 2017; 10.1038/s10038-017-0375-x


Abstract | Full Text

Novel recessive mutations in MSTO1 cause cerebellar atrophy with pigmentary retinopathy

Kazuhiro Iwama, Toru Takaori, Ai Fukushima, Jun Tohyama, Akihiko Ishiyama et al.

Journal of Human Genetics 2018 63 :263 - 270; January 16, 2018; 10.1038/s10038-017-0405-8


Abstract | Full Text

Nationwide survey on cerebrotendinous xanthomatosis in Japan


Journal of Human Genetics 2018 63 :271 - 280; January 10, 2018; 10.1038/s10038-017-0389-4


Abstract | Full Text

Clinical and mutational spectrum of Japanese patients with recessive variants in SH3TC2

Jun-Hui Yuan, Akihiro Hashiguchi, Yuji Okamoto, Akiko Yoshimura, Masahiro Ando et al.

Journal of Human Genetics 2018 63 :281 - 287; January 10, 2018; 10.1038/s10038-017-0388-5


Abstract | Full Text

Genotypic variability-based genome-wide association study identifies non-additive loci HLA-C and IL12B for psoriasis


Journal of Human Genetics 2017 63 :289 - 296; December 19, 2017; 10.1038/s10038-017-0350-6


Abstract | Full Text

GAREM1 regulates the PR interval on electrocardiograms

Hye Ok Kim, Ji Eun Lim, Myung Jun Kim, Ji-One Kang, Sung-Moon Kim et al.

Journal of Human Genetics 2017 63 :297 - 307; December 22, 2017; 10.1038/s10038-017-0367-x


Abstract | Full Text

Decisional conflict and regret: shared decision-making about pregnancy affected by β-thalassemia major in Southeast of Iran

Zahra Moudi, Zenab Phanodi, Hossein Ansari & Mostafa Montazer Zohour

Journal of Human Genetics 2017 63 :309 - 317; December 22, 2017; 10.1038/s10038-017-0379-6


Abstract | Full Text

An epigenome-wide methylation study of healthy individuals with or without depressive symptoms

Mihoko Shimada, Takeshi Otowa, Taku Miyagawa, Tadashi Umekage, Yoshiya Kawamura et al.

Journal of Human Genetics 2018 63 :319 - 326; January 05, 2018; 10.1038/s10038-017-0382-y


Abstract | Full Text

Genome-wide association study of homocysteine in African Americans from the Jackson Heart Study, the Multi-Ethnic Study of Atherosclerosis, and the Coronary Artery Risk in Young Adults study

Laura M. Raffield, Jaclyn Ellis, Nels C. Olson, Qing Duan, Jin Li et al.

Journal of Human Genetics 2018 63 :327 - 337; January 10, 2018; 10.1038/s10038-017-0384-9


Abstract | Full Text

Mediation analysis of alcohol consumption, DNA methylation, and epithelial ovarian cancer

Dongyan Wu, Haitao Yang, Stacey J. Winham, Yanina Natanzon, Devin C. Koestler et al.

Journal of Human Genetics 2018 63 :339 - 348; January 10, 2018; 10.1038/s10038-017-0385-8


Abstract | Full Text

Molecular characterization of HDAC8 deletions in individuals with atypical Cornelia de Lange syndrome

Maria Helgeson, Jennifer Keller-Ramey, Amy Knight Johnson, Jennifer A. Lee, Daniel B. Magner et al.

Journal of Human Genetics 2017 63 :349 - 356; December 26, 2017; 10.1038/s10038-017-0387-6


Abstract | Full Text

Detection of de novo single nucleotide variants in offspring of atomic-bomb survivors close to the hypocenter by whole-genome sequencing

Makiko Horai, Hiroyuki Mishima, Chisa Hayashida, Akira Kinoshita, Yoshibumi Nakane et al.

Journal of Human Genetics 2017 63 :357 - 363; December 26, 2017; 10.1038/s10038-017-0392-9


Abstract | Full Text

A novel human muscle cell model of Duchenne muscular dystrophy created by CRISPR/Cas9 and evaluation of antisense-mediated exon skipping


Journal of Human Genetics 2018 63 :365 - 375; January 16, 2018; 10.1038/s10038-017-0400-0


Abstract | Full Text

Brief Communication

A severely short-statured girl with 47,XX, + 14/46,XX,upd(14)mat, mosaicism

Kikumi Ushijima, Syuichi Yatsuga, Takako Matsumoto, Akie Nakamura, Maki Fukami et al.

Journal of Human Genetics 2018 63 :377 - 381; January 09, 2018; 10.1038/s10038-017-0381-z


Abstract | Full Text

Characteristic dysmorphic features in congenital disorders of glycosylation type IIb

Yoon-Myung Kim, Go Hun Seo, Euiseok Jung, Ja-Hyun Jang, Sook Za Kim et al.

Journal of Human Genetics 2017 63 :383 - 386; December 13, 2017; 10.1038/s10038-017-0386-7


Abstract | Full Text

A hot-spot mutation in CDC42 (p.Tyr64Cys) and novel phenotypes in the third patient with Takenouchi-Kosaki syndrome

Midori Motokawa, Satoshi Watanabe, Akiko Nakatomi, Tatsuro Kondoh, Tadashi Matsumoto et al.

Journal of Human Genetics 2018 63 :387 - 390; January 15, 2018; 10.1038/s10038-017-0396-5


Abstract | Full Text


Correction: The absence that makes the difference: choroidal abnormalities in Legius syndrome

Arianna Tucci, Veronica Saletti, Francesca Menni, Claudia Cesaretti, Giulietta Scuvera et al.

Journal of Human Genetics 2018 63 :391 - 391; February 07, 2018; 10.1038/s10038-017-0369-8


Abstract | Full Text

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