1. 王晓斌 美国 Johns Hopkins University 2018美国医学院院士 Mutation analysis of the phenylalanine hydroxylase gene and prenatal diagnosis of phenylketonuria in..
2. 范上达 中国 香港大学 中国工程院院士 Mutational analysis of 65 Wilson disease patients in Hong Kong Chinese: Identification of 17 novel m..
3. Seymour,Kaufman 美国 National Institute of Mental Health (NIMH) 1986美国科学院院士 the hyperphenylalaninemias of man and mouse
4. 曾溢滔 中国 上海交通大学医学院 中国工程院院士 phenylketonuria in china - identification and characterization of 3 novel nucleotide substitutions i..
5. 金力 中国 复旦大学 教授 中国科学院院士 multiple origins for phenylketonuria in europe
6. Vernon R. Young 美国 HUMAN Nutrition Laboratory 1990美国科学院院士 phenylalanine and tyrosine kinetics in relation to altered protein and phenylalanine and tyrosine in..
7. 曾溢滔 中国 上海交通大学医学院 中国工程院院士 identification of 3 novel missense pku mutations among chinese
8. Nobuo,Yaegashi 日本 Tohoku University Estimating carrier frequencies of newborn screening disorders using a whole-genome reference panel o..
9. Masayuki,Yamamoto 日本 Tohoku University Estimating carrier frequencies of newborn screening disorders using a whole-genome reference panel o..
10. Shigeo,Kure 日本 Tohoku University Estimating carrier frequencies of newborn screening disorders using a whole-genome reference panel o..
11. Hoffmann, Georg F. 德国 Heidelberg University Relationship between genotype, phenylalanine hydroxylase expression and in vitro activity and metabo..
12. Blau, Nenad 瑞士 Kinderspital Zürich Relationship between genotype, phenylalanine hydroxylase expression and in vitro activity and metabo..
13. Maurizio,Margaglione 意大利 University of Foggia In vitro residual activity of phenylalanine hydroxylase variants and correlation with metabolic phen..
14. Blau, Nenad 瑞士 Kinderspital Zürich In vitro residual activity of phenylalanine hydroxylase variants and correlation with metabolic phen..
15. Motohashi, Hozumi 日本 Tohoku University The structural origin of metabolic quantitative diversity
16. Shinichi,Kuriyama 日本 Tohoku University The structural origin of metabolic quantitative diversity
17. Shigeo,Kure 日本 Tohoku University The structural origin of metabolic quantitative diversity
18. Nobuo,Yaegashi 日本 Tohoku University The structural origin of metabolic quantitative diversity
19. Masayuki,Yamamoto 日本 Tohoku University The structural origin of metabolic quantitative diversity
20. John,Moult 美国 University of Maryland Protein stability and in vivo concentration of missense mutations in phenylalanine hydroxylase