Showing results (11-20 of 49) with videos related to

Sort By:
Pageof 5
Pediatric Neurology|April 18, 2003
Cerebellar and brainstem involvement in familial juvenile nephronophthisis type IKyoko Takano, Tetsu Nakamoto, Maki Okajima, et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|December 18, 2007
A loss-of-function mutation in the FTSJ1 gene causes nonsyndromic X-linked mental retardation in a Japanese familyKyoko Takano, Eiji Nakagawa, Ken Inoue, et al.
Molecular Syndromology|October 30, 2023
Reanalysis of Chromosomal Microarray Data Using a Smaller Copy Number Variant Call Threshold Identifies Four Cases with Heterozygous Multiexon Deletions of ARID1B, EHMT1, and FOXP1 GenesNoriko Kubota, Ryojun Takeda, Jun Kobayashi, et al.
Brain & Development|May 29, 2017
Clinical features of a female with WDR45 mutation complicated by infantile spasms: a case report and literature reviewManami Morikawa, Kyoko Takano, Mitsuo Motobayashi, et al.
Internal Medicine (Tokyo, Japan)|August 26, 2021
Reversible Leukoencephalopathy in a Man with Childhood-onset Hyperornithinemia-Hyperammonemia-Homocitrullinuria SyndromeYumi Hoshino, Minori Kodaira, Atsuhiro Matsuno, et al.
American Journal of Medical Genetics. Part A|October 21, 2015
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 literatureKyoko Takano, Naoko Shiba, Keiko Wakui, et al.
Journal of Human Genetics|June 27, 2014
Causative novel PNKP mutations and concomitant PCDH15 mutations in a patient with microcephaly with early-onset seizures and developmental delay syndrome and hearing lossMitsuko Nakashima, Kyoko Takano, Hitoshi Osaka, et al.
Pediatrics International : Official Journal of the Japan Pediatric Society|April 15, 2015
Japanese familial case of myoclonus-dystonia syndrome with a splicing mutation in SGCETakahito Wada, Kyoko Takano, Yoshinori Tsurusaki, et al.
European Journal of Medical Genetics|July 17, 2017
Early manifestations of epileptic encephalopathy, brain atrophy, and elevation of serum neuron specific enolase in a boy with beta-propeller protein-associated neurodegenerationKyoko Takano, Kazuya Goto, Mitsuo Motobayashi, et al.
Annals of Neurology|July 12, 2002
Germline mosaicism of a novel mutation in lysosome-associated membrane protein-2 deficiency (Danon disease)Maki Takahashi, Ayaka Yamamoto, Kyoko Takano, et al.
Pageof 5