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Elsevier电子期刊(28)

在“Elsevier电子期刊”中，命中：28条，耗时：0.0199889 秒

在所有数据库中总计命中：52条

1.Molecular Genetic Dissection and Neonatal/Infantile Intrahepatic Cholestasis Using Targeted Next-Generation Sequencing

作者：Takao Togawa ; MD¹ ; Tokio Sugiura ; MD ; PhD¹ ; ^{tokio@med.nagoya-cu.ac.jp" class="auth_mail" title="E-mail the corresponding author} ; Koichi Ito ; MD ; PhD¹ ; Takeshi Endo ; MD ; PhD¹ ; Kohei Aoyama ; MD¹ ; Kei Ohashi ; MD¹ ; Yutaka Negishi ; MD¹ ; Toyoichiro Kudo ; MD ; PhD² ; Reiko Ito ; MD ; PhD² ; Atsuo Kikuchi ; MD ; PhD³ ; Natsuko Arai-Ichinoi ; MD ; PhD³ ; Shigeo Kure ; MD ; PhD³ ; Shinji Saitoh ; MD ; PhD¹

关键词：ALGS ; Alagille syndrome ; ALT ; Alanine aminotransferase ; AR ; Autosomal-recessive inheritance ; AST ; Aspartate aminotransferase ; BRIC ; Benign recurrent intrahepatic cholestasis ; CNV ; Copy number variation ; D.Bil ; Direct bilirubin ; DJS ; Dubin-Johnson syndrome ; GGT ; Gamma glutamyl transpeptidase ; HGVB ; Human Genetic Variation Browser ; Ion PGM ; Ion Torrent Personal Genome Machine ; IR 4.0 ; Ion Reporter 4.0 ; MAF ; Minor allele frequency ; MLPA ; Multiplex ligation-dependent probe amplification ; NGS ; Next-g

刊名：The Journal of Pediatrics

出版年：2016

2.A case of 3p deletion syndrome associated with cerebellar hemangioblastoma

作者：Sato Suzuki-Muromoto^a ; Naomi Hino-Fukuyo^a ; ^b ; ^{naomi-h@zc4.so-net.ne.jp" class="auth_mail" title="E-mail the corresponding author} ; Kazuhiro Haginoya^a ; ^c ; Atsuo Kikuchi^a ; Hiroki Sato^a ; Yuko Sato^a ; Tojo Nakayama^a ; Yuki Kubota^a ; Yosuke Kakisaka^a ; Mitsugu Uematsu^a ; Toshihiro Kumabe^d ; Shigeo Kure MD^a

关键词：3p deletion syndrome ; von Hippel&ndash ; Lindau disease ; Hemangioblastoma ; Cerebellar hemangioblastoma

刊名：Brain and Development

出版年：2016

3.Effect of a blackout in pediatric patients with home medical devices during the 2011 eastern Japan earthquake

作者：Tojo Nakayama ; Soichiro Tanaka ; Mitsugu Uematsu ; Atsuo Kikuchi ; Naomi Hino-Fukuyo ; Tetsuji Morimoto ; Osamu Sakamoto ; Shigeru Tsuchiya ; Shigeo Kure

关键词：Technology-assisted patients ; Respirator failure ; Neurological disorder ; Disaster preparedness ; Pediatric admission

刊名：Brain and Development

出版年：February, 2014

4.Early replacement therapy in a first Japanese case with autosomal recessive guanosine triphosphate cyclohydrolase I deficiency with a novel point mutation

作者：Hiroki Sato ; Mitsugu Uematsu ; Wakaba Endo ; Tojo Nakayama ; Tomoko Kobayashi ; Naomi Hino-Fukuyo ; Osamu Sakamoto ; Haruo Shintaku ; Shigeo Kure

关键词：Autosomal recessive guanosine triphosphate cyclohydrolase I (GTPCH) ; Tetrahydrobiopterin (BH4) ; Hyperphenylalaninemia ; Early replacement therapy

刊名：Brain and Development

出版年：March, 2014

5.T-cell receptor ligation causes Wiskott-Aldrich syndrome protein degradation and F-actin assembly downregulation

作者：Yuko Watanabe ; Yoji Sasahara ; Narayanaswamy Ramesh ; Michel J. Massaad ; Chung Yeng Looi ; Satoru Kumaki ; Shigeo Kure ; Raif S. Geha ; Shigeru Tsuchiya

关键词：Wiskott-Aldrich syndrome ; Wiskott-Aldrich syndrome protein ; T-cell receptor ; calpain ; ubiquitination ; proteasome ; F-actin ; Cbl family proteins

刊名：Journal of Allergy and Clinical Immunology

出版年：2013

6.Increased Ki-67 immunoreactivity in the white matter in hemimegalencephaly

作者：Mitsutoshi Munakata ; Mika Watanabe ; Taisuke Otsuki ; Masayuki Itoh ; Mitsugu Uematsu ; Yuko Saito ; Ryoko Honda ; Shigeo Kure

关键词：Hemimegalencephaly ; Cortical dysplasia ; Ki-67 ; Microglia ; Epilepsy

刊名：Neuroscience Letters

出版年：2013

7.Asymmetric Drug-Induced Tremor: Rare Feature of a Common Event

作者：Yosuke Kakisaka ; MD^a ; ^b ; ^{kakisuke@mui.biglobe.ne.jp} ; Satoko Ito ; MD^b ; Tomoichiro Ohara ; MD^a ; Naomi Hino-Fukuyo ; MD^b ; Mitsugu Uematsu ; MD^b ; Shigeo Kure ; MD^b

刊名：Pediatric Neurology

出版年：2013

8.Head Turning Associated With Involuntary Gaze Deviation

作者：Yosuke Kakisaka ; Naomi Hino-Fukuyo ; Shigeo Kure

刊名：Pediatric Neurology

出版年：2013

9.Two novel laboratory tests facilitating diagnosis of glycine encephalopathy (nonketotic hyperglycinemia)

作者：Shigeo ; Kure ; ; ; ^{kure@med.tohoku.ac.jp}

关键词：¹³C-glycine breath test ; Decarboxylation of glycine in vivo ; Detection of large deletions in GLDC ; The MLPA analysis

刊名：Brain and Development

出版年：2011

10.Nonketotic Hyperglycinemia: Proposal of a Diagnostic and Treatment Strategy

作者：Yuka Suzuki ; Shigeo Kure ; Masaaki Oota ; Hitomi Hino ; Mitsumasa Fukuda

刊名：Pediatric Neurology

出版年：2010

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2027年及以后(2)

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2008年(1)

2007年(1)

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2004年(6)

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2000年及以前(4)