185 件中 21 - 40 件目
英語 ：Akaba Y, Shiohama T, Komaki Y, Seki F, Ortug A, Sawada D, Uchida W, Kamagata K, Shimoji K, Aoki S, Takahashi S, Suzuki T, Natsume J, Takahashi E, Tsujimura K , Comprehensive volumetric analysis of Mecp2-null mouse model for Rett syndrome by T2-weighted 3D magnetic resonance imaging. , Front Neurosci, 16 （885335 - ） , 2022 , （IF:4.154）
英語 ：Yazawa T, Sato T, Nemoto T, Nagata S, Imamichi Y, Kitano T, Sekiguchi T, Uwada J, Islam MS, Mikami D, Nakajima I, Takahashi S, Khan MRI, Suzuki N, Umezawa A, Ida T , 11-Ketotestosterone is a Major Androgen Produced in Porcine Adrenal Glands and Testes. , J Steroid Biochem Mol Biol , 2021 , （IF:3.813）
英語 ：Akaba Y, Takeguchi R, Tanaka R, Takahashi S. , A complex phenotype of a patient with spastic paraplegia type 4 caused by a novel pathogenic variant in the SPAST gene. , Case Rep Neurol, 13 （763 - 771） , 2021
英語 ：Islam S, Uwada J, Hayashi J, Kikuya K, Muranishi A, Watanabe H, Yaegashi K, Hasegawa K, Ida T, Sato T, Imamichi Y, Kitano T, Miyashiro Y, Khan RI, Takahashi S, Umezawa A, Suzuki N, Sekiguchi T, Yazawa T. , Analyses of molecular characteristics and enzymatic activities of ovine HSD17B3. , Animals, 11 （2876 - ） , 2021 , （IF:2.323）
英語 ：Takeguchi R, Takahashi S, Akaba Y, Tanaka R, Nabatame S, Kurosawa K, Matsuishi T, Itoh M , Early diagnosis of MECP2 duplication syndrome: insights from a nationwide survey in Japan. , J Neurol Sci, 422 （117321 - ） , 2021 , （IF:3.115）
英語 ：Akaba Y, Takahashi S, Takeguchi R, Tanaka R, Nabatame S, Saitsu H, Matsumoto N , Phenotypic overlap between FOXG1 syndrome and PDH deficiency. , Clin Case Rep, 9 （1711 - 1715） , 2021
英語 ：Yazawa T, Inaba H, Imamichi Y, Sekiguchi T, Uwada J, Islam S, Orisaka M, Mikami D, Ida T, Sato T, Miyashiro Y, Takahashi S, Khan MRI, Suzuki N, Umezawa A, Kitano T , Profiles of 5alpha-reduced androgens in humans and eels: 5alpha-dihydrotestosterone and 11-ketodihydrotestosterone are active androgens produced in eel gonads , Front Endocrinol, 126 （657360 - ） , 2021 , （IF:3.675）
英語 ：Wakabayashi T, Fukumura S, Takahashi S, Kurosawa K, Miyamoto S, Tsuchida K, Kato S, Tsugawa T, Sakai Y, Kawasaki Y , Stereotyped upper limb movement in MECP2 duplication syndrome , Neurology , 2021 , （IF:8.77）
英語 ：Takahashi S, Takeguchi R, Kuroda M, Tanaka R , Atypical Rett syndrome in a girl with mosaic triple X and MECP2 variant , Mol Genet Genomic Med, 8 （e1122 - ） , 2020 , （IF:2.448）
英語 ：Saikusa T, Kawaguchi M, Tanioka T, Nabatame S, Takahashi S, Yuge K, Nagamitsu S, Takahashi T, Yamashita Y, Kobayashi Y, Ikenaga T, Hirayama C, Kakuma T, Matsuishi T, Ito M , Meaningful word acquisition is associated with walking ability over 10 years in Rett syndrome. , Brain Dev, 42 （705 - 712） , 2020 , （IF:1.860）
英語 ：Takahashi S, Tanaka R, Takeguchi R, Kuroda M, Akaba Y, Ito Y , The role of molecular analysis of SLC2A1 in the diagnostic workup of glucose transporter 1 deficiency syndrome. , J Neurol Sci, 416 （117041 - ） , 2020 , （IF:3.115）
英語 ：Tanaka R, Takahashi S, Kuroda M, Takeguchi R, Suzuki N, Makita Y, Narumi-Kishimoto Y, Kaname T , Biallelic SZT2 variants in a child with developmental and epileptic encephalopathy. , Epileptic Disord , 22 （501 - 505） , 2020 , （IF:2.052）
英語 ：Bergsma AJ, In 't Groen SLM, Catalano F, Yamanaka F, Takahashi S, Okumiya T, van der Ploeg AT, Pijnappel WWMP , A generic assay for the identification of splicing variants that induce nonsense-mediated decay in Pompe disease. , Eur J Hum Genet, 29 （422 - 433） , 2020 , （IF:3.54）
英語 ：Okano S, Shimada S, Tanaka R, Okayama A, Kajihama A, Suzuki N, Nakau K, Takahashi S, Matsumoto N, Saitsu H, Tanboon J, Nishino I, Azuma H , Life-threatening muscle complications of COL4A1-related disorder , Brain Dev, 42 （93 - 97） , 2020 , （IF:1.756）
英語 ：Yazawa T, Imamichi Y, Uwada J, Sekiguchi T, Mikami D, Kitano T, Ida T, Sato T, Nemoto T, Nagata S, khan r, Takahashi S, Ushikubi F, Suzuki N, Umezawa A, Taniguchi T , Evaluation of 17β-hydroxysteroid dehydrogenase activity using androgen receptor-mediated transactivation. , J Steroid Biochem Mol Biol, 196 （105493 - ） , 2020 , （IF:3.785）
英語 ：Yazawa T, Imamichi Y, Yuhki KI, Uwada J, Mikami D, Shimada M, Miyamoto K, Kitano T, Takahashi S, Sekiguchi T, Suzuki N, Rafiqul Islam Khan M, Ushikubi F, Umezawa A, Taniguchi T , Cyclooxygenase-2 is acutely induced by CCAAT/enhancer-binding β protein to produce prostaglandin E2 and F2α following gonadotropin stimulation in Leydig cells. , Mol Reprod Dev, 86 （786 - 797） , 2019 , （IF:3.113）
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 ：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 ：Okumura A, Shimojima K, Kurahashi H, Numoto S, Shimada S, Ishii A, Ohmori I, Takahashi S, Awaya T, Kubota T, Sakakibara T, Ishihara N, Hattori A, Torisu H, Tohyama J, Inoue T, Haibara A, Nishida T, Yuhara Y, Miya K, Tanaka R, Hirose S, Yamamoto T , PRRT2 mutations in Japanese patients with benign infantile epilepsy and paroxysmal kinesigenic dyskinesia. , Seizure, 71 （1 - 5） , 2019 , （IF:2.839）
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