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Affiliation |
Hospital Pediatrics |
Graduating School 【 display / non-display 】
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-1995.03
Akita University Faculty of Medicine Graduated
Graduate School 【 display / non-display 】
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-2002.03
Akita University Graduate School,Division of Medicine Doctor's Course Completed
Campus Career 【 display / non-display 】
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2014.02-Now
Akita University Hospital Pediatrics Lecturer
Thesis for a degree 【 display / non-display 】
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Acid sphingomyelinase: relation of 93lysine residue on the ratio of intracellular to secreted enzyme activity.
Takahashi I, Takahashi T, Mikami T, Komatsu M, Ohura T, Schuchman EH, Takada G.
Tohoku J Exp Med. 206 ( 4 ) 333 - 340 2002.03
Single author
Research Achievements 【 display / non-display 】
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Three novel MTM1 pathogenic variants identified in Japanese patients with X-linked myotubular myopathy.
Nishikawa A, Iida A, Hayashi S, Okubo M, Oya Y, Yamanaka G, Takahashi I, Nonaka I, Noguchi S, Nishino I.
Mol Genet Genomic Med. 7 ( 5 ) 2019.05 [Refereed]
Research paper (journal) Domestic Co-author
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Levothyroxine Dosage as Predictor of Permanent and Transient Congenital Hypothyroidism: A Multicenter Retrospective Study in Japan.
Itonaga T, Higuchi S, Shimura K, Nagasaki K, Satoh M, Takubo N, Takahashi I, Sawada H, Hasegawa Y.
Horm Res Paediatr. 92 ( 1 ) 45 - 51 2019.04 [Refereed]
Research paper (journal) Domestic Co-author
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A novel S269C mutation in fibroblast growth factor receptor 3 in a Japanese child with hypochondroplasia.
Takahashi I, Kondo D, Oyama C, Yano T, Tamura H, Noguchi A, Takahashi T.
Hum Genome Var. 2018.12 [Refereed]
Research paper (journal) Domestic Co-author
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A novel ZC4H2 gene mutation, K209N, in Japanese siblings with arthrogryposis multiplex congenita and intellectual disability: characterization of the K209N mutation and clinical findings.
Kondo D, Noguchi A, Takahashi I, Kubota H, Yano T, Sato Y, Toyono M, Sawaishi Y, Takahashi T.
Brain Dev. 40 ( 9 ) 760 - 767 2018.10 [Refereed]
Research paper (journal) Domestic Co-author