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The Tohoku Journal of Experimental Medicine|June 20, 2017
Efficacy of Denosumab for Osteoporosis in Three Female Patients with Osteogenesis ImperfectaMasashi Uehara, Yukio Nakamura, Jun Takahashi, et al.
Clinical and Experimental Immunology|May 2, 2026
Concurrent central nervous system infection with Candida and Mycobacterium intracellulare in CARD9 deficiency: immunological insights from a single caseTomonari Shigemura, Haruo Nagumo, Norimoto Koabayashi, et al.
Human Genome Variation|October 31, 2017
A novel frameshift mutation of SYNE1 in a Japanese family with autosomal recessive cerebellar ataxia type 8Tsuneaki Yoshinaga, Katsuya Nakamura, Masumi Ishikawa, et al.
American Journal of Physiology. Cell Physiology|August 22, 2022
Alterations in glycosaminoglycan biosynthesis associated with the Ehlers-Danlos syndromesDelfien Syx, Sarah Delbaere, Catherine Bui, et al.
American Journal of Medical Genetics. Part A|July 13, 2022
Clinical and molecular features of patients with COL1-related disorders: Implications for the wider spectrum and the risk of vascular complicationsRyojun Takeda, Tomomi Yamaguchi, Shujiro Hayashi, et al.
Circulation Journal : Official Journal of the Japanese Circulation Society|October 14, 2016
Decreased Aortic Elasticity in Children With Marfan Syndrome or Loeys-Dietz SyndromeYohei Akazawa, Noriko Motoki, Akira Tada, et al.
International Journal of Hematology|March 24, 2021
A novel germline GATA2 frameshift mutation with a premature stop codon in a family with congenital sensory hearing loss and myelodysplastic syndromeHideyuki Nakazawa, Tomomi Yamaguchi, Hitoshi Sakai, et al.
American Journal of Medical Genetics. Part A|September 13, 2011
Implantable cardioverter defibrillator for progressive hypertrophic cardiomyopathy in a patient with LEOPARD syndrome and a novel PTPN11 mutation Gln510HisYasushi Wakabayashi, Kyohei Yamazaki, Yoko Narumi, et al.
Therapeutics and Clinical Risk Management|July 25, 2018
Efficacy of denosumab therapy for neurofibromatosis type 1 with osteoporosis and history of fractures: a case reportMasashi Uehara, Yukio Nakamura, Jun Takahashi, et al.
DEN Open|December 22, 2025
Adalimumab-responsive Monogenic Inflammatory Bowel Disease With Pseudopolyposis Characteristic of TGFBR2 Variant in Loeys-Dietz SyndromeTomomitsu Sado, Satoshi Ukai, Shingo Kurasawa, et al.
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