188 件中 41 - 60 件目
英語 :Iwama K, Mizuguchi T, Takeshita E, Nakagawa E, Okazaki T, Nomura Y, Iijima Y, Kajiura I, Sugai K, Saito T, Sasaki M, Yuge K, Saikusa T, Okamoto N, Takahashi S, Amamoto M, Tomita I, Kumada S, Anzai Y, Hoshino K, Fattal-Valevski A, Shiroma N, Ohfu M, Moroto M, Tanda K, Nakagawa T, Sakakibara T, Nabatame S, Matsuo M, Yamamoto A, Yukishita S, Inoue K, Waga C, Nakamura Y, Watanabe S, Ohba C, Sengoku T, Fujita A, Mitsuhashi S, Miyatake S, Takata A, Miyake N, Ogata K, Ito S, Saitsu H, Matsuishi T, Goto YI, Matsumoto N , Genetic landscape of Rett syndrome-like phenotypes revealed by whole exome sequencing. , J Med Genet, 56 (396 - 407) , 2019 , (IF:5.751)
英語 :Takeguchi R, Takahashi S, Kuroda M, Tanaka R, Suzuki N, Tomonoh Y, Ihara Y, Sugiyama N, Itoh M , MeCP2_e2 partially compensates for lack of MeCP2_e1: a male case of Rett syndrome , Mol Genet Genomic Med, 8 , 2019 , (IF:2.448)
英語 :Üstyol A, Takahashi S, Hatipoğlu HU, Duman MA, Elevli M, Duru HNS , A novel mutation in SLC2A1 gene causing GLUT-1 deficiency syndrome in a young adult patient , Turk J Pediatr, 61 (946 - 948) , 2019 , (IF:0.275)
英語 :Harada K, Yamamoto M, Konishi Y, Koyano K, Takahashi S, Namba M, Kusaka T , Hypoplastic hippocampus in atypical Rett syndrome with a novel FOXG1 mutation. , Brain Dev, 40 (49 - 52) , 2018 , (IF:1.52)
英語 :Shioda T, Takahashi S, Kaname T, Yamauchi T, Fukuoka T. , MECP2 mutation in a boy with severe apnea and sick sinus syndrome. , Brain Dev, 40 (714 - 718) , 2018
英語 :Akaba Y, Takahashi S, Sasaki Y, Kajino H , Successful treatment of normokalemic periodic paralysis with hydrochlorothiazide. , Brain Dev, 40 (833 - 836) , 2018 , (IF:1.52)
英語 :Tanaka R, Takahashi S, Okano S, Okayama A, Suzuki N, Kure S, Azuma H , Evolution into moyamoya disease in an infant with internal carotid artery aneurysms , eNeurologicalSci, 6 (80 - 82) , 2017
英語 :Takahashi S, Matsufuji M, Yonee C, Tsuru H, Sano N, Oguni H , Somatic mosaicism for a SLC2A1 mutation: implications for genetic counseling for GLUT1 deficiency syndrome , Clin Genet, 91 (932 - 934) , 2017 , (IF:3.892)
英語 :Imamichi Y, Sekiguchi T, Kitano T, Kajitani T, Okada R, Inaoka Y, Miyamoto K, Uwada J, Takahashi S, Nemoto T, Mano A, Khan MRI, Islam MT, Yuhki KI, Kashiwagi H, Ushikubi F, Suzuki N, Taniguchi T, Yazawa T , Diethylstilbestrol administration 1 inhibits theca cell androgen and granulosa cell estrogen production in immature rat ovary. , Sci Rep, 7 (8374 - ) , 2017 , (IF:4.259)
英語 :Okano S, Tanaka R, Okayama A, Tsuchida E, Nohara F, Suzuki N, Okamoto T, Nagaya K, Takahashi S, Azuma H , Congenital basal meningoceles with different outcomes: a case series , J Med Case Reports, 11 (359 - ) , 2017
英語 :Fujii T, Ito Y, Takahashi S, Shimono K, Natsume J, Yanagihara K, Oguni H , Outcome of ketogenic diet for GLUT1 deficiency syndrome in Japan: nationwide survey , Brain Dev, 38 (628 - 637) , 2016 , (IF:1.88)
英語 :Takahashi S, Tanaka R, Okano S, Okayama A, Suzuki N, Azuma H , Reduced efficacy of enzyme replacement therapy in a child with late-onset Pompe disease. , Pediat Therapeut, 6 (2) , 2016
英語 :Araki A, Ikegami M, Okayama A, Matsumoto N, Takahashi S, Azuma H, Takahashi M , Improved prefrontal activity in ADHD children treated with atomoxetine: a NIRS study , Brain Dev, 37 (76 - 67) , 2015 , (IF:2.119)
英語 :Takahashi S, Yamamoto S, Okayama A, Araki A, Saitsu H, Matsumoto N, Azuma H , Electroclinical features of epileptic encephalopathy caused by SCN8A mutation , Pediatr Int, 57 (758 - 762) , 2015 , (IF:0.731)
英語 : Ito Y, Takahashi S, Shimono K, Natsume J, Yanagihara K, Fujii T, Oguni H , Nationwide survey of glucose transporter-1 deficiency syndrome (GLUT-1DS) in Japan. , Brain Dev, 37 (780 - 789) , 2015 , (IF:1.542)
英語 :Yamamoto S, Takahashi S, Tanaka R, Okayama A, Araki A, Katano H, Tanaka-Taya K, Azuma H , Human herpesvirus-6 infection-associated acute encephalopathy without skin rash. , Brain Dev, 37 (829 - 832) , 2015 , (IF:1.542)
英語 :Takahashi S, Yamamoto S, Tanaka R, Okayama A, Araki A, Azuma H , Focal frontal epileptiform discharges in a patient with eyelid myoclonia and absence seizures. , Epilepsy Behavior Case Reports, 4 (35 - 37) , 2015
英語 :Takahashi S, Tanaka R, Okano S, Suzuki N, Okayama A, Azuma H , Characterization of intragenic tandem duplication in the PAFAH1B1 gene leading to isolated lissencephaly sequence , Mol Cytogenet, 8 (84 - ) , 2015 , (IF:2.14)
英語 :Matsumoto N, Takahashi S, Okayama A, Araki A, Azuma H , Benign infantile convulsion as a diagnostic clue of paroxysmal kinesigenic dyskinesia: a case report , J Med Case Reports, 8 (174 - ) , 2014 , (IF:0.36)
英語 :Utreras E, Hamada R, Prochazkova M, Terse A, Takahashi S, Ohshima T, Kulkarni AB , Suppression of neuroinflammation in forebrain-specific Cdk5 conditional knockout mice by PPAR-gamma agonist improves neuronal loss and early lethality , J Neuroinflammation, 11 (28 - ) , 2014 , (IF:4.35)
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