Rchr
J-GLOBAL ID：200901012300939577
Update date: May. 29, 2020
Yorifuji Tooru
ヨリフジ トオル | Yorifuji Tooru
Affiliation and department：
Job title：
Lecturer,Lecturer,Lecturer
Research field (1)：
Fetal medicine/Pediatrics
Research keywords (2)：
代謝内分泌遺伝病
, Endocrinoligy/Metabolism/Genetics
Research theme for competitive and other funds (2)：
- 遺伝病の診断と治療
- Diagnosis and Treatment of Genetic Diseases
MISC (9)：
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Neonatal diabetes mellitus and neonatal polycystic dysplastic kidneys : Phenotypically discordant recurrence of a mutation in the hepatic nuclear factor 1β gene due to germline mosaicism. J Clin Endocrinol Metab. 2004. 89 : 2905-2908
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T Yorifuji, M Kawai, J Muroi, M Mamada, K Kurokawa, Y Shigematsu, S Hirano, N Sakura, Yoshida, I, T Kuhara, et al. Unexpectedly high prevalence of the mild form of propionic acidemia in Japan: presence of a common mutation and possible clinical implications. HUMAN GENETICS. 2002. 111. 2. 161-165
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T Yorifuji, M Kawai, J Muroi, M Mamada, K Kurokawa, Y Shigematsu, S Hirano, N Sakura, Yoshida, I, T Kuhara, et al. Unexpectedly high prevalence of the mild form of propionic acidemia in Japan: presence of a common mutation and possible clinical implications. HUMAN GENETICS. 2002. 111. 2. 161-165
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T Yorifuji, J Muroi, M Kawai, A Uematsu, H Sasaki, T Momoi, M Kaji, C Yamanaka, K Furusho. Uniparental and functional X disomy in Turner syndrome patients with unexplained mental retardation and X derived marker chromosomes. JOURNAL OF MEDICAL GENETICS. 1998. 35. 7. 539-544
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T Yorifuji, J Muroi, M Kawai, H Sasaki, T Momoi, K Furusho. PCR-based defection of mosaicism in Turner syndrome patients. HUMAN GENETICS. 1997. 99. 1. 62-65
ｍore...
Education (4)：
- - 1989 Kyoto University
- - 1989 Kyoto University Graduate School, Division of Medicine
- - 1982 Kyoto University Faculty of Medicine
- - 1982 Kyoto University Faculty of Medicine
Professional career (1)：
- Doctor of Medicine (Kyoto University)
Committee career (2)：
- 1998 - 1999 日本先天代謝異常学会 評議員
- 1999 - 日本小児内分泌学会 評議員
Association Membership(s) (5)：
日本内分泌学会
, 日本先天代謝異常学会
, 日本小児内分泌学会
, 日本人類遺伝学会
, 日本小児科学会
