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Plos One|August 8, 2014
Characterization of novel MSX1 mutations identified in Japanese patients with nonsyndromic tooth agenesisSeishi Yamaguchi, Junichiro Machida, Munefumi Kamamoto, et al.Human Genome Variation|July 21, 2021
Novel MSX1 frameshift mutation in a Japanese family with nonsyndromic oligodontiaJunya Adachi, Yoshihiko Aoki, Tadashi Tatematsu, et al.Human Mutation|April 14, 2025
A Novel Constitutively Active c.98G > C, p.(R33P) Variant in RAB11A Associated with Intellectual Disability Promotes Neuritogenesis and Affects Oligodendroglial ArborizationYumi Tsuneura, Taeko Kawai, Keitaro Yamada, et al.Developmental Biology|June 13, 2009
Lack of the mesodermal homeodomain protein MEOX1 disrupts sclerotome polarity and leads to a remodeling of the cranio-cervical joints of the axial skeletonSusan Skuntz, Baljinder Mankoo, Minh-Thanh T Nguyen, et al.Mutagenesis|July 30, 2015
Characterisation of novel RUNX2 mutation with alanine tract expansion from Japanese cleidocranial dysplasia patientAkio Shibata, Junichiro Machida, Seishi Yamaguchi, et al.Plos One|June 2, 2015
An aberrant splice acceptor site due to a novel intronic nucleotide substitution in MSX1 gene is the cause of congenital tooth agenesis in a Japanese familyTadashi Tatematsu, Masashi Kimura, Mitsuko Nakashima, et al.Human Mutation|November 11, 2005
Fates of Cdh23/CDH23 with mutations affecting the cytoplasmic regionSatoshi Yonezawa, Norio Yoshizaki, Takashi Kageyama, et al.Human Genome Variation|July 21, 2021
A novel LRP6 variant in a Japanese family with oligodontiaHiroki Goto, Masashi Kimura, Junichiro Machida, et al.Human Genome Variation|January 26, 2023
Novel WNT10A variant in a Japanese case of nonsyndromic oligodontiaJunya Adachi, Yoshihiko Aoki, Hiroto Izumi, et al.Iscience|November 17, 2025
miR-199a functions downstream of MeCP2 in neurons of MECP2 duplication syndrome modelsYuichi Akaba, Satoru Takahashi, Shota Adachi, et al.Pageof 5