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Brain & Development|September 30, 2006
A case of acute cerebellitis accompanied by autoantibodies against glutamate receptor delta2Tomoyuki Shimokaze, Mitsuhiro Kato, Yozo Yoshimura, et al.
Fetal Diagnosis and Therapy|November 7, 2008
Prenatal diagnosis of thanatophoric dysplasia by 3-D helical computed tomography and genetic analysisSeiji Tsutsumi, Hideaki Sawai, Gen Nishimura, et al.
Journal of Human Genetics|November 3, 2009
Polyalanine expansion of PHOX2B in congenital central hypoventilation syndrome: rs17884724:A>C is associated with 7-alanine expansionHiroko Arai, Tesshu Otagiri, Ayako Sasaki, et al.
Human Mutation|October 29, 2002
Molecular analysis in Japanese patients with Charcot-Marie-Tooth disease: DGGE analysis for PMP22, MPZ, and Cx32/GJB1 mutationsChikahiko Numakura, Changqing Lin, Tohru Ikegami, et al.
Journal of Child Neurology|September 24, 2011
Congenital dysplastic microcephaly and hypoplasia of the brainstem and cerebellum with diffuse intracranial calcificationKazuyuki Nakamura, Mitsuhiro Kato, Ayako Sasaki, et al.
Pediatrics International : Official Journal of the Japan Pediatric Society|September 26, 2012
Respiratory syncytial virus-associated encephalopathy complicated by congenital myopathyKazuyuki Nakamura, Mitsuhiro Kato, Ayako Sasaki, et al.
Brain & Development|October 20, 2006
Acute cerebellar ataxia and consecutive cerebellitis produced by glutamate receptor delta2 autoantibodyTakashi Shiihara, Mitsuhiro Kato, Akihiro Konno, et al.
Human Genome Variation|April 16, 2016
A novel ETFB mutation in a patient with glutaric aciduria type IIYosuke Sudo, Ayako Sasaki, Takashi Wakabayashi, et al.
Annals of Plastic Surgery|July 8, 2010
The Nuss technique for Jeune asphyxiating thoracic dystrophy repair in siblingsNoriaki Kikuchi, Hideo Kashiwa, Toshihoko Ogino, et al.
Neuromuscular Disorders : NMD|June 18, 2013
The first Japanese case of Charcot-Marie-Tooth disease type 4H with a novel FGD4 c.837-1G>A mutationHidee Arai, Makiko Hayashi, Kiyoshi Hayasaka, et al.
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