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Journal of Genetic Counseling|November 15, 2023
Decision-making processes behind seeking regular cardiac checkups for individuals with Marfan syndrome: A grounded theory studySayoko Haruyama, Masako Torishima, Hidenori Kawasaki, et al.
Pediatric Radiology|May 17, 2013
Transient ischemic attack-like episodes without stroke-like lesions in MELASTadahiro Mitani, Noriko Aida, Moyoko Tomiyasu, et al.
Biochemical and Biophysical Research Communications|January 26, 2020
Pharmacological prospects of G-quadruplexes for neurological diseases using porphyrinsSefan Asamitsu, Yasushi Yabuki, Susumu Ikenoshita, et al.
Pediatric Neurology|November 9, 2013
A three-year-old boy with glucose transporter type 1 deficiency syndrome presenting with episodic ataxiaAkiko Ohshiro-Sasaki, Hiroko Shimbo, Kyoko Takano, et al.
Brain & Development|June 15, 2010
Genetic diagnosis and acetazolamide treatment of familial hemiplegic migraineTaku Omata, Jun-ichi Takanashi, Takahito Wada, et al.
Magnetic Resonance in Medical Sciences : MRMS : an Official Journal of Japan Society of Magnetic Resonance in Medicine|December 16, 2014
Intracranial Hemorrhage and Tortuosity of Veins Detected on Susceptibility-weighted Imaging of a Child with a Type IV Collagen α1 Mutation and SchizencephalyTetsu Niwa, Noriko Aida, Hitoshi Osaka, et al.
Brain & Development|July 19, 2005
Uniparental disomy and imprinting defects in Japanese patients with Angelman syndromeShinji Saitoh, Takahito Wada, Maki Okajima, et al.
Acta Radiologica (Stockholm, Sweden : 1987)|December 21, 2011
Acute hemicerebellitis in a pediatric patient: a case report of a serial MR spectroscopy studyMoyoko Tomiyasu, Noriko Aida, Tadahiro Mitani, et al.
American Journal of Medical Genetics. Part A|January 6, 2005
A woman with 46,XX,dup(16)(p13.11 p13.3) and the ATR-X phenotypeKeiko Akahoshi, Hirohumi Ohashi, Yukio Hattori, et al.
No to Hattatsu = Brain and Development|April 19, 2013
[A case of X-linked alpha-thalassemia/mental retardation (ATR-X) syndrome with repeated apnea attacks due to laryngomalacia]Yuko Ebishima, Takako Misaki, Kenji Owa, et al.
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