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Journal of Human Genetics|June 17, 2016
Evaluation of polygenic risks for narcolepsy and essential hypersomniaMaria Yamasaki, Taku Miyagawa, Hiromi Toyoda, et al.Journal of Human Genetics|July 1, 2016
Nationwide survey for current clinical status of amniocentesis and maternal serum marker test in JapanHidehiko Miyake, Shigehito Yamada, Yosuke Fujii, et al.Journal of Human Genetics|July 1, 2016
Target resequencing of neuromuscular disease-related genes using next-generation sequencing for patients with undiagnosed early-onset neuromuscular disordersYuri Kitamura, Eri Kondo, Mari Urano, et al.Journal of Human Genetics|February 26, 2016
Adults with germline CBL mutation complicated with juvenile myelomonocytic leukemia at infancyMichiko Muraoka, Chiho Okuma, Kiichiro Kanamitsu, et al.Journal of Human Genetics|February 26, 2016
Human genetic variation database, a reference database of genetic variations in the Japanese populationKoichiro Higasa, Noriko Miyake, Jun Yoshimura, et al.Journal of Human Genetics|February 26, 2016
Genetic diagnosis of Duchenne/Becker muscular dystrophy using next-generation sequencing: validation analysis of DMD mutationsMariko Okubo, Narihiro Minami, Kanako Goto, et al.Journal of Human Genetics|March 18, 2016
Fetal cell-free DNA fraction in maternal plasma is affected by fetal trisomyNobuhiro Suzumori, Takeshi Ebara, Takahiro Yamada, et al.Journal of Human Genetics|December 19, 2014
A powerful association test for qualitative traits incorporating imprinting effects using general pedigree dataJi-Yuan Zhou, Hai-Qiang He, Xiao-Ping You, et al.Journal of Human Genetics|December 19, 2014
PlexinA polymorphisms mediate the developmental trajectory of human corpus callosum microstructureMichel Belyk, Shelly Jo Kraft, Steven Brown, et al.Pageof 353