Detalhe da pesquisa
1.
[Analysis of TGFBI gene mutation in a pedigree affected with corneal dystrophy].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 35(5): 672-674, 2018 Oct 10.
Artigo
em Zh
| MEDLINE | ID: mdl-30298492
2.
[Analysis of chromosome regions 8q11.1-q13.3, 1q32-q34.3 and 14q31.1-q13.3 in a Chinese family with congenital preauricular fistula].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 32(4): 472-5, 2015 Aug.
Artigo
em Zh
| MEDLINE | ID: mdl-26252087
3.
DNA methylation age acceleration is associated with age of onset in Chinese spinocerebellar ataxia type 3 patients.
Neurobiol Aging
; 113: 1-6, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35247757
4.
[Split hand/foot malformation: report of a family with 20 cases].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 30(4): 498-9, 2013 Aug.
Artigo
em Zh
| MEDLINE | ID: mdl-23926022
5.
[Genetic analysis of a Chinese pedigree with split hand and foot malformation].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 24(6): 620-4, 2007 Dec.
Artigo
em Zh
| MEDLINE | ID: mdl-18067070
6.
Systematic screening for polymorphisms in the CYP3A4 gene in the Chinese population.
Pharmacogenomics
; 7(6): 831-41, 2006 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-16981844
7.
A novel mutation of PAX3 in a Chinese family with Waardenburg syndrome.
Mol Vis
; 12: 1001-8, 2006 Aug 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-16971891
8.
[Mutation analysis of 12S rRNA and tRNA-Ser(UCN) genes in a large Chinese family with maternally inherited nonsyndromic hearing loss by intermarriage].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 23(3): 303-5, 2006 Jun.
Artigo
em Zh
| MEDLINE | ID: mdl-16767669
9.
[Mutation detection of COL1A1 gene in a pedigree with osteogenesis imperfecta].
Yi Chuan Xue Bao
; 32(3): 248-52, 2005 Mar.
Artigo
em Zh
| MEDLINE | ID: mdl-15931785
10.
[A family with nonsyndromic hearing impairment caused by intermarry].
Yi Chuan
; 27(4): 553-6, 2005 Jul.
Artigo
em Zh
| MEDLINE | ID: mdl-16120576
11.
A novel insertion mutation in the FOXL2 gene is detected in a big Chinese family with blepharophimosis-ptosis-epicanthus inversus.
Mutat Res
; 554(1-2): 19-22, 2004 Oct 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-15450400
12.
[Genetic analysis of a Chinese pedigree with congenital synpolydactyly].
Yi Chuan Xue Bao
; 30(10): 973-7, 2003 Oct.
Artigo
em Zh
| MEDLINE | ID: mdl-14669516
13.
Differences in CYP3A41G genotype distribution and haplotypes of CYP3A4, CYP3A5 and CYP3A7 in 3 Chinese populations.
Clin Chim Acta
; 383(1-2): 172-4, 2007 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-17582393
14.
Novel deletion mutation of DSRAD in a Chinese family with Dyschromatosis Symmetrica Hereditaria (DSH).
Eur J Dermatol
; 17(3): 247-8, 2007.
Artigo
em Inglês
| MEDLINE | ID: mdl-17478391
15.
Systematic screening for polymorphisms within the UGT1A6 gene in three Chinese populations and function prediction through structural modeling.
Pharmacogenomics
; 10(5): 741-52, 2009 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-19450126
16.
Screening for SNPs and haplotypes in the CYP3A7 gene in Chinese populations.
Pharmacogenomics
; 8(6): 559-66, 2007 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-17559345