Journal of Human Genetics 10月号 Open Access Articleのお知らせ/Message from Journal of Human Genetics; latest Open Access articles

Journal of Human Genetics 10月号のOpen Access Articleをぜひご覧ください。

Check out our Open Access articles in October issue of Journal of Human Genetics.

Open Access articles in Issue 10:

Article | Hammarsjöet al. | High diagnostic yield in skeletal ciliopathies using massively parallel genome sequencing, structural variant screening and RNA analyses

Article | Acharya et al. | Wolfram-like syndrome with bicuspid aortic valve due to a homozygous missense variant in CDK13

Brief Communication | Nishina et al. | Biallelic CDK9 variants as a cause of a new multiple-malformation syndrome with retinal dystrophy mimicking the CHARGE syndrome

Brief Communication | Yanagi et al. | A novel missense variant of the GNAI3 gene and recognisable morphological characteristics of the mandibula in ARCND1