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Pediatrics International : Official Journal of the Japan Pediatric Society|December 10, 2015
CHST14/D4ST1 deficiency: New form of Ehlers-Danlos syndromeTomoki Kosho
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|August 30, 2014
Genotype-phenotype correlation of Coffin-Siris syndrome caused by mutations in SMARCB1, SMARCA4, SMARCE1, and ARID1ATomoki Kosho, Nobuhiko Okamoto,
Genes|February 25, 2023
Mouse Models of Musculocontractural Ehlers-Danlos SyndromeTakahiro Yoshizawa, Tomoki Kosho
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|September 20, 2016
Perspectives on the care and advances in the management of children with trisomy 13 and 18John C Carey, Tomoki Kosho
Genes|June 28, 2023
Spinal Deformity in Ehlers-Danlos Syndrome: Focus on Musculocontractural TypeMasashi Uehara, Jun Takahashi, Tomoki Kosho
Advances in Experimental Medicine and Biology|November 22, 2021
Ehlers Danlos Syndrome with Glycosaminoglycan AbnormalitiesNoriko Miyake, Tomoki Kosho, Naomichi Matsumoto
Advances in Experimental Medicine and Biology|January 21, 2014
Ehlers-Danlos syndrome associated with glycosaminoglycan abnormalitiesNoriko Miyake, Tomoki Kosho, Naomichi Matsumoto
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|August 30, 2014
Coffin-Siris syndrome and related disorders involving components of the BAF (mSWI/SNF) complex: historical review and recent advances using next generation sequencingTomoki Kosho, Noriko Miyake, John C Carey
American Journal of Medical Genetics. Part A|May 13, 2026
Clinical Outcomes and Patient Experiences With Celiprolol Therapy in Vascular Ehlers-Danlos Syndrome: The First Non-European CohortMegumi Furuhata-Yoshimura, Tomomi Yamaguchi, Tomoki Kosho
American Journal of Medical Genetics. Part A|July 19, 2021
Detailed clinical and radiological features of the first patient with Elsahy-Waters syndrome in East AsiaMari Minatogawa, Yoshinori Tsukahara, Shunsuke Yuzuriha, et al.
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