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donderdag 30 november 2017

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

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Human Genome Variation

Table of Contents: November 2017

Brief Communication | 30 November 2017

The smallest de novo 20q11.2 microdeletion causing intellectual disability and dysmorphic features

Hiroaki Hanafusa, Naoya Morisada, Yusuke Ishida, Ryosuke Sakata, Keiichi Morita et al.

Human Genome Variation 4, Article number: 17050 | doi:10.1038/hgv.2017.50

Article | 09 November 2017

Factor XI gene variants in factor XI-deficient patients of Southern Italy: identification of a novel mutation and genotype�phenotype relationship

Giovanni L Tiscia, Giovanni Favuzzi, Maria R Lupone, Filomena Cappucci, Michele Schiavulli et al.

Human Genome Variation 4, Article number: 17043 | doi:10.1038/hgv.2017.43

Article | 09 November 2017

Three brothers with a nonsense mutation in KAT6A caused by parental germline mosaicism

Chisei Satoh, Ryuta Maekawa, Akira Kinoshita, Hiroyuki Mishima, Michiko Doi et al.

Human Genome Variation 4, Article number: 17045 | doi:10.1038/hgv.2017.45

Brief Communication | 09 November 2017

WNT10A variants isolated from Japanese patients with congenital tooth agenesis

Junichiro Machida, Hiroaki Goto, Tadashi Tatematsu, Akio Shibata, Hitoshi Miyachi et al.

Human Genome Variation 4, Article number: 17047 | doi:10.1038/hgv.2017.47

Brief Communication | 09 November 2017

A novel DARS2 mutation in a Japanese patient with leukoencephalopathy with brainstem and spinal cord involvement but no lactate elevation

Keiko Shimojima, Takafumi Higashiguchi, Kanako Kishimoto, Satoko Miyatake, Noriko Miyake et al.

Human Genome Variation 4, Article number: 17051 | doi:10.1038/hgv.2017.51

Article | 02 November 2017

Combined approach for finding susceptibility genes in DISH/chondrocalcinosis families: whole-genome-wide linkage and IBS/IBD studies

Ana Rita Couto, Bruna Parreira, Russell Thomson, Marta Soares, Deborah M Power et al.

Human Genome Variation 4, Article number: 17041 | doi:10.1038/hgv.2017.41

Article | 02 November 2017

Factor VII deficiency: a novel missense variant and genotype-phenotype correlation in patients from Southern Italy

Giovanni Tiscia, Giovanni Favuzzi, Elena Chinni, Donatella Colaizzo, Lucia Fischetti et al.

Human Genome Variation 4, Article number: 17048 | doi:10.1038/hgv.2017.48

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