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Therapeutics and Clinical Risk Management|March 19, 2019
Efficacy of denosumab therapy for a 21-year-old woman with Prader-Willi syndrome, osteoporosis and history of fractures: a case reportMasashi Uehara, Yukio Nakamura, Jun Takahashi, et al.American Journal of Medical Genetics. Part A|December 6, 2011
Myelodysplastic syndrome in a child with 15q24 deletion syndromeYoko Narumi, Masaaki Shiohara, Keiko Wakui, et al.Clinical Biochemistry|February 28, 2017
Defect in dermatan sulfate in urine of patients with Ehlers-Danlos syndrome caused by a CHST14/D4ST1 deficiencyShuji Mizumoto, Tomoki Kosho, Atsushi Hatamochi, et al.Molecular Genetics & Genomic Medicine|November 26, 2024
A Novel Synonymous Variant in SQSTM1 Causes Neurodegeneration With Ataxia, Dystonia, and Gaze Palsy Revealed by Urine-Derived Cells-Based Functional AnalysisShinji Masuko, Mitsuto Sato, Katsuya Nakamura, et al.The Journal of Obstetrics and Gynaecology Research|May 7, 2026
Fatal Aortic Rupture at Term Pregnancy Caused by Vascular Ehlers-Danlos Syndrome Diagnosed by Postmortem Genetic Testing Using Formalin-Fixed, Paraffin-Embedded TissueMari Tadakawa, Tomomi Yamaguchi, Hasumi Tomita, et al.Experimental Animals|June 12, 2020
Backcrossing to an appropriate genetic background improves the birth rate of carbohydrate sulfotransferase 14 gene-deleted miceShin Shimada, Takahiro Yoshizawa, Yuki Takahashi, et al.Journal of Human Genetics|May 3, 2013
Follow-up nationwide survey on predictive genetic testing for late-onset hereditary neurological diseases in JapanKeiko Tanaka, Yoshiki Sekijima, Kunihiro Yoshida, et al.Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis|May 25, 2024
Genetic counselling for at-risk family members with hereditary transthyretin amyloidosis: data from a single-centre studyKatsuya Nakamura, Tsuneaki Yoshinaga, Akiko Sakyu, et al.Interventional Neuroradiology : Journal of Peritherapeutic Neuroradiology, Surgical Procedures and Related Neurosciences|October 20, 2020
Intracranial and extracranial multiple arterial dissecting aneurysms in rheumatoid arthritis: A case reportKen Uekawa, Yasuyuki Kaku, Toshihiro Amadatsu, et al.Internal Medicine (Tokyo, Japan)|September 20, 2017
Mobile Cecum in a Young Woman with Ehlers-Danlos Syndrome Hypermobility type: A Case Report and Review of the LiteratureYoshihisa Fukuda, Yusuke Higuchi, Kanae Shinozaki, et al.Pageof 17