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Congenital Anomalies|June 4, 2009
Severe upper airway stenosis in a boy with partial monosomy 16p13.3pter and partial trisomy 16q22qterKeitaro Yamada, Atsushi Uchiyama, Mayuki Arai, et al.
Molecular Genetics and Metabolism Reports|October 14, 2021
Current status of surviving patients with arginase 1 deficiency in JapanJun Kido, Shirou Matsumoto, Eiko Takeshita, et al.
World Journal of Clinical Cases|June 29, 2023
Reading impairment after neonatal hypoglycemia with parieto-temporo-occipital injury without cortical blindness: A case reportNaoko Kurahashi, Shunsuke Ogaya, Yuki Maki, et al.
The Tohoku Journal of Experimental Medicine|January 24, 2008
Successful treatment of neonatal herpes simplex-type 1 infection complicated by hemophagocytic lymphohistiocytosis and acute liver failureKeitaro Yamada, Yutaka Yamamoto, Atsushi Uchiyama, et al.
Brain & Development|June 18, 2018
Is hiragana decoding impaired in children with periventricular leukomalacia?Naoko Kurahashi, Yukiko Futamura, Norie Nonobe, et al.
Human Mutation|April 14, 2025
A Novel Constitutively Active <i>c</i>.98<i>G</i> > <i>C</i>, p.(R33P) Variant in <i>RAB11A</i> Associated with Intellectual Disability Promotes Neuritogenesis and Affects Oligodendroglial ArborizationYumi Tsuneura, Taeko Kawai, Keitaro Yamada, et al.
Pediatric Neurology|September 7, 2014
Thalamic lesions in acute encephalopathy with biphasic seizures and late reduced diffusionNaoko Kurahashi, Takeshi Tsuji, Toru Kato, et al.
Brain & Development|April 14, 2017
Characteristics of epilepsy in patients with Kabuki syndrome with KMT2D mutationsNaoko Kurahashi, Noriko Miyake, Seiji Mizuno, et al.
Epilepsy & Behavior : E&B|November 23, 2021
Effectiveness of lacosamide in children and young adults previously treated with other sodium channel blockersTakeshi Suzuki, Jun Natsume, Sumire Kumai, et al.
Molecular Genetics and Metabolism|January 24, 2007
Kinetic and expression analyses of seven novel mutations in mitochondrial acetoacetyl-CoA thiolase (T2): identification of a Km mutant and an analysis of the mutational sites in the structureSatomi Sakurai, Toshiyuki Fukao, Antti M Haapalainen, et al.
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