Κυριακή 24 Νοεμβρίου 2019


Genetic abnormalities in a large cohort of Coffin–Siris syndrome patients,

Futoshi Sekiguchi, Yoshinori Tsurusaki, Nobuhiko Okamoto, Keng Wee Teik, Seiji Mizuno et al.
Journal of Human Genetics 2019 64 :1173 - 1186; September 17, 2019; 10.1038/s10038-019-0667-4

Importance of gastric cancer for the diagnosis and surveillance of Japanese Lynch syndrome patients

Tsuneo Ikenoue, Masami Arai, Chikashi Ishioka, Takeo Iwama, Satoshi Kaneko et al.
Journal of Human Genetics 2019 64 :1187 - 1194; October 07, 2019; 10.1038/s10038-019-0674-5

Comparison of effects of UGT1A1*6 and UGT1A1*28 on irinotecan-induced adverse reactions in the Japanese population: analysis of the Biobank Japan Project

Keiko Hikino, Takeshi Ozeki, Masaru Koido, Chikashi Terao, Yoichiro Kamatani et al.
Journal of Human Genetics 2019 64 :1195 - 1202; October 04, 2019; 10.1038/s10038-019-0677-2

MicroRNA-370 functions as a tumor suppressor in hepatocellular carcinoma via inhibition of the MAPK/JNK signaling pathway by targeting BEX2

Xin Wang, Wenyan Zhu, Chuanshen Xu, Feng Wang, Xiaodan Zhu et al.
Journal of Human Genetics 2019 64 :1203 - 1217; September 17, 2019; 10.1038/s10038-019-0653-x

A missense variant in PER2 is associated with delayed sleep–wake phase disorder in a Japanese population

Taku Miyagawa, Akiko Hida, Mihoko Shimada, Chihiro Uehara, Yuri Nishino et al.
Journal of Human Genetics 2019 64 :1219 - 1225; September 17, 2019; 10.1038/s10038-019-0665-6

Association between BHMT and CBS gene promoter methylation with the efficacy of folic acid therapy in patients with hyperhomocysteinemia

Xiaowen Huang, Dankang Li, Qinglin Zhao, Chengda Zhang, Bingnan Ren et al.
Journal of Human Genetics 2019 64 :1227 - 1235; September 27, 2019; 10.1038/s10038-019-0672-7

BRIEF COMMUNICATION

Homozygous variant, p.(Arg643Trp) in VAC14 causes striatonigral degeneration: report of a novel variant and review of VAC14-related disorders

Parneet Kaur, Gandham SriLakshmi Bhavani, Arun Raj, Katta Mohan Girisha & Anju Shukla
Journal of Human Genetics 2019 64 :1237 - 1242; October 08, 2019; 10.1038/s10038-019-0678-1

CORRESPONDENCE

Using facial analysis technology in a typical genetic clinic: experience from 30 individuals from a single institution

Yuri A. Zarate, Katherine A. Bosanko & Karen W. Gripp
Journal of Human Genetics 2019 64 :1243 - 1245; September 24, 2019; 10.1038/s10038-019-0673-6

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