31 results on '"Cheng, Chun"'
Search Results
2. A new polymorphism (c28CA) of EXT2 gene identified in a Taiwan Chinese family
3. Two novel polymorphisms (c954TC and c1038AG) in exon8 of NPHS2 gene identified in Taiwan Chinese
4. A novel mutation (Q239R) identified in a Taiwan Chinese patient with type VI mucopolysaccharidosis (Maroteaux-Lamy syndrome)
5. An R223P mutation in EXT2 gene causes hereditary multiple exostoses
6. A novel polymorphism (c288C>T) of the NPHS2 gene identified in a Taiwan Chinese family
7. Two novel polymorphisms (c954T>C and c1038A>G) in exon8 of NPHS2 gene identified in Taiwan Chinese Communicated by Mark H. Paalman Online Citation: Human Mutation, Mutation and Polymorphism Report #217 (2001) Online http://journals.wiley.com/1059-7794/pdf/mutation/mpr217.pdf Acknowledgments: This study was supported by a grant (DMR-90-103) from China Medical College Hospital of Taiwan.
8. A novel in-frame deletion mutation (c106-111del) identified in a Taiwan Chinese patient with type IVA mucopolysaccharidosis
9. A 651-665delinsTT mutation in EXT1 causes hereditary multiple exostoses
10. A new polymorphism (c28C>A) of EXT2 gene identified in a Taiwan Chinese family
11. Identification of a polymorphism (D168N) in the XRP2 gene in Chinese
12. A novel mutation K167X of the XLRS1 gene (RS1) in a Taiwanese family with X-linked juvenile retinoschisis Communicated by: Mark H. Paalman Online Citation: Human Mutation, Mutation and Polymorphism Report #173 (2000) Online http://journals.wiley.com/1059-7794/pdf/mutation/mpr173.pdf Acknowledgments: We thank Yu-Huu Liang for preparing this manuscript. The work is funded by grants from China Medical College Hospital (DMR 89-006).
13. Identification of a polymorphism (G83S) in the TWIST gene in Taiwanese
14. Identification of a polymorphism (D366H) in the endoglin gene in Chinese
15. An R223P mutation in EXT2 gene causes hereditary multiple exostoses
16. A novel mutation (Q239R) identified in a Taiwan Chinese patient with type VI mucopolysaccharidosis (Maroteaux-Lamy syndrome)
17. Identification of a novel missense mutation (T16A) in the glucose-6-phosphatase gene in a Taiwan Chinese patient with glycogen storage disease Ia (Von Gierke disease)
18. A novel polymorphism (c288C>T) of the NPHS2 gene identified in a Taiwan Chinese family
19. A novel missense mutation (H119L) identified in a Taiwan Chinese family with glycogen storage disease Ia (Von Gierke disease)
20. Insertion/deletion mutations of type I oculocutaneous albinism in Chinese patients from Taiwan
21. Two novel polymorphisms (c954T>C and c1038A>G) in exon8 of NPHS2 gene identified in Taiwan Chinese Communicated by Mark H. Paalman Online Citation: Human Mutation, Mutation and Polymorphism Report #217 (2001) Online http://journals.wiley.com/1059-7794/pdf/mutation/mpr217.pdf Acknowledgments: This study was supported by a grant (DMR-90-103) from China Medical College Hospital of Taiwan
22. A 651-665delinsTT mutation in EXT1 causes hereditary multiple exostoses
23. A novel mutation K167X of the XLRS1 gene (RS1) in a Taiwanese family with X-linked juvenile retinoschisis Communicated by: Mark H. Paalman Online Citation: Human Mutation, Mutation and Polymorphism Report #173 (2000) Online http://journals.wiley.com/1059-7794/pdf/mutation/mpr173.pdf Acknowledgments: We thank Yu-Huu Liang for preparing this manuscript. The work is funded by grants from China Medical College Hospital (DMR 89-006)
24. Identification of a polymorphism (G83S) in the TWIST gene in Taiwanese
25. Identification of a polymorphism (D366H) in the endoglin gene in Chinese
26. Identification of a novel missense mutation (T16A) in the glucose-6-phosphatase gene in a Taiwan Chinese patient with glycogen storage disease Ia (Von Gierke disease)
27. A novel mutation K167X of the XLRS1 gene (RS1) in a Taiwanese family with X-linked juvenile retinoschisis
28. A novel missense mutation (H119L) identified in a Taiwan Chinese family with glycogen storage disease Ia (Von Gierke disease)
29. Mutation analysis of Wilson disease in Taiwan and description of six new mutations
30. Insertion/deletion mutations of type I oculocutaneous albinism in Chinese patients from Taiwan
31. A novel polymorphism (c288C>T) of the NPHS2 gene identified in a Taiwan Chinese family.
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