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Clinical Rheumatology|January 28, 2006
Intrafamilial phenotypic diversity in multiple epiphyseal dysplasia associated with a COL9A2 mutation (EDM2)Mitsuhiko Takahashi, Yoshito Matsui, Tomohiro Goto, et al.Oxford Medical Case Reports|June 23, 2021
Hypoplasia of abdominal wall muscles following massive fetal persistent chylous ascites without anemiaTetsu Yamaguchi, Shunsuke Tamaru, Natsuko Takano, et al.American Journal of Medical Genetics. Part A|May 2, 2008
Cryptic 17q22 deletion in a boy with a t(10;17)(p15.3;q22) translocation, multiple synostosis syndrome 1, and hypogonadotropic hypogonadismReiko Shimizu, Norimasa Mitsui, Yasuhiro Mori, et al.Journal of Pediatric Orthopedics. Part B|October 9, 2024
Dandy-Walker malformations with other complex congenital deformities associated with scoliosis: a case seriesMasayoshi Machida, Masafumi Machida, Katsuaki Taira, et al.Human Genetics|January 30, 2004
Novel SBDS mutations caused by gene conversion in Japanese patients with Shwachman-Diamond syndromeEiji Nakashima, Akihiko Mabuchi, Yoshio Makita, et al.Human Genetics|March 31, 2007
A recurrent mutation in type II collagen gene causes Legg-Calvé-Perthes disease in a Japanese familyYoshinari Miyamoto, Tatsuo Matsuda, Hiroshi Kitoh, et al.Familial Cancer|March 13, 2013
Frameshift mutation in the PTCH2 gene can cause nevoid basal cell carcinoma syndromeKatsunori Fujii, Hirofumi Ohashi, Maiko Suzuki, et al.Theoretical Biology & Medical Modelling|January 10, 2021
Required concentration index quantifies effective drug combinations against hepatitis C virus infectionYusuke Kakizoe, Yoshiki Koizumi, Yukino Ikoma, et al.American Journal of Medical Genetics. Part A|July 22, 2004
Circulating COMP is decreased in pseudoachondroplasia and multiple epiphyseal dysplasia patients carrying COMP mutationsAkihiko Mabuchi, Shigeki Momohara, Hirofumi Ohashi, et al.Viruses|February 28, 2023
Antiviral Activity of Micafungin and Its Derivatives against SARS-CoV-2 RNA ReplicationShogo Nakajima, Hirofumi Ohashi, Daisuke Akazawa, et al.Pageof 21