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A novel PAK3 pathogenic variant identified in two siblings from a Japanese family with X-linked intellectual disability: case report and review of the literature.
Iida A, Takano K, Takeshita E, Abe-Hatano C, Hirabayashi S, Inaba Y, Kosugi S, Kamatani Y, Momozawa Y, Kubo M, Nakagawa E, Inoue K, Goto YI. Iida A, et al. Among authors: takano k. Cold Spring Harb Mol Case Stud. 2019 Dec 13;5(6):a003988. doi: 10.1101/mcs.a003988. Print 2019 Dec. Cold Spring Harb Mol Case Stud. 2019. PMID: 31444167 Free PMC article. Review.
Elevation of neuron specific enolase and brain iron deposition on susceptibility-weighted imaging as diagnostic clues for beta-propeller protein-associated neurodegeneration in early childhood: Additional case report and review of the literature.
Takano K, Shiba N, Wakui K, Yamaguchi T, Aida N, Inaba Y, Fukushima Y, Kosho T. Takano K, et al. Am J Med Genet A. 2016 Feb;170A(2):322-328. doi: 10.1002/ajmg.a.37432. Epub 2015 Oct 20. Am J Med Genet A. 2016. PMID: 26481852 Review.
Rigid Occipitocervical Instrumented Fusion for Atlantoaxial Instability in an 18-Month-Old Toddler With Brachytelephalangic Chondrodysplasia Punctata: A Case Report.
Oba H, Takahashi J, Takano K, Inaba Y, Motobayashi M, Nishimura G, Kuraishi S, Shimizu M, Ikegami S, Futatsugi T, Uehara M, Kosho T, Kato H, Uno K. Oba H, et al. Among authors: takano k. Spine (Phila Pa 1976). 2017 Dec 1;42(23):E1380-E1385. doi: 10.1097/BRS.0000000000002170. Spine (Phila Pa 1976). 2017. PMID: 28338574
1,941 results