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Scientific Reports|October 7, 2024
High-density lipoprotein functionality in cholesterol efflux in early childhood is related to the content ratio of triglyceride to cholesterolAkiko Futatsugi, Minoru Tozuka, Yuna Horiuchi, et al.American Journal of Medical Genetics. Part A|March 11, 2006
Neonatal management of trisomy 18: clinical details of 24 patients receiving intensive treatmentTomoki Kosho, Tomohiko Nakamura, Hiroshi Kawame, et al.Journal of Surgical Case Reports|January 4, 2017
Painful locking of the wrist in a patient with pseudoachondroplasia confirmed by COMP mutationHirokazu Ideta, Shigeharu Uchiyama, Masanori Hayashi, et al.Internal Medicine (Tokyo, Japan)|March 8, 2023
Long-term Observation of a Japanese Patient with a Multiple-system Neurodegenerative Disorder with a Uniallelic de novo Missense Variant in KIF1AKatsuya Nakamura, Tsuneaki Yoshinaga, Minori Kodaira, et al.Genes|January 8, 2020
Recent Advances in the Pathophysiology of Musculocontractural Ehlers-Danlos SyndromeTomoki Kosho, Shuji Mizumoto, Takafumi Watanabe, et al.Genes|November 11, 2022
Clinical Presentation and Characteristics of the Upper Extremity in Patients with Musculocontractural Ehlers-Danlos SyndromeFumihiro Isobe, Masanori Hayashi, Rena Kobayashi, et al.Human Genome Variation|November 15, 2022
Atypical Sotos syndrome caused by a novel splice site variantMari Minatogawa, Taichi Tsuji, Mie Inaba, et al.American Journal of Medical Genetics. Part A|August 20, 2025
Current Nationwide Landscape of Cardiac Surgery for Children With Trisomy 18 in JapanShintaro Nemoto, Hisateru Tachimori, Tomoki Kosho, et al.American Journal of Medical Genetics. Part A|September 15, 2005
Ehlers-Danlos syndrome type VIB with characteristic facies, decreased curvatures of the spinal column, and joint contractures in two unrelated girlsTomoki Kosho, Jun Takahashi, Hirofumi Ohashi, et al.The Journal of Obstetrics and Gynaecology Research|January 5, 2023
The detailed obstetric course of the first Japanese patient with AEBP1-related Ehlers-Danlos syndrome (classical-like EDS, type 2)Hiromi Sanai, Yasuhiko Nakamura, Yuta Koike, et al.Pageof 17