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Epilepsy Research|March 8, 2026
Risk factors of epilepsy severity in institutionalized adults with profound intellectual and multiple disabilities from childhoodYuri Sakaguchi, Hiromi Seki, Yuji Iwasaki, et al.
Frontiers in Genetics|December 5, 2022
Case report: Mild phenotype of a patient with vascular Ehlers-Danlos syndrome and COL3A1 duplication mutation without alteration in the [Gly-X-Y] repeat sequenceShujiro Hayashi, Tomomi Yamaguchi, Tomoki Kosho, et al.
Pharmaceuticals (Basel, Switzerland)|March 28, 2017
Pathophysiological Significance of Dermatan Sulfate Proteoglycans Revealed by Human Genetic DisordersShuji Mizumoto, Tomoki Kosho, Shuhei Yamada, et al.
American Journal of Medical Genetics. Part A|December 8, 2023
Cause, severity, and efficacy of treatment for hearing loss in children with Trisomy 18: A single institution-based retrospective studyRiriko Sato, Hidekane Yoshimura, Tomoki Kosho, et al.
Genes|March 29, 2023
Pathophysiological Investigation of Skeletal Deformities of Musculocontractural Ehlers-Danlos Syndrome Using Induced Pluripotent Stem CellsFengming Yue, Takumi Era, Tomomi Yamaguchi, et al.
American Journal of Medical Genetics. Part A|June 23, 2023
Homozygous splice site variant affecting the first von Willebrand factor A domain of COL12A1 in a patient with myopathic Ehlers-Danlos syndromeMegumi Furuhata-Yoshimura, Tomomi Yamaguchi, Yayoi Izu, et al.
American Journal of Medical Genetics. Part A|May 31, 2013
Natural history and parental experience of children with trisomy 18 based on a questionnaire given to a Japanese trisomy 18 parental support groupTomoki Kosho, Hideo Kuniba, Yuko Tanikawa, et al.
Interventional Neuroradiology : Journal of Peritherapeutic Neuroradiology, Surgical Procedures and Related Neurosciences|May 28, 2015
Aggressive change of a carotid-cavernous fistula in a patient with Ehlers-Danlos syndrome type IVAtsuhiro Kojima, Isako Saga, Ryosuke Tomio, et al.
Clinical Therapeutics|December 2, 2010
Successful pregnancy and lactation outcome in a patient with Gaucher disease receiving enzyme replacement therapy, and the subsequent distribution and excretion of imiglucerase in human breast milkYoshiki Sekijima, Toya Ohashi, Satoshi Ohira, et al.
Endocrine Journal|July 16, 2025
Novel germline likely pathogenic frameshift variant of the MEN1 gene contributes to multiple endocrine neoplasia type 1: a case report with review of literatureMasanori Yamazaki, Tomomi Kojima, Yusuke Shibata, et al.
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