Detalles de la búsqueda
1.
Ectopic expression of NnPER1, a Nelumbo nucifera 1-cysteine peroxiredoxin antioxidant, enhances seed longevity and stress tolerance in Arabidopsis.
Plant J
; 88(4): 608-619, 2016 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-27464651
2.
[Association study between candidate genes on transforming growth factor-ß signaling pathway and the risk of non-syndromic cleft lip with or without cleft palate in Chinese populations].
Beijing Da Xue Xue Bao Yi Xue Ban
; 47(3): 384-9, 2015 Jun 18.
Artículo
en Zh
| MEDLINE | ID: mdl-26080863
3.
[Association study for gene polymorphism of folic acid/homocysteine metabolic pathway and nonsyndromic cleft lip with or without cleft palate in Chinese populations].
Beijing Da Xue Xue Bao Yi Xue Ban
; 45(3): 352-8, 2013 Jun 18.
Artículo
en Zh
| MEDLINE | ID: mdl-23774909
4.
[Mutation analysis of PTPN11 gene in Noonan syndrome].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 27(5): 554-8, 2010 Oct.
Artículo
en Zh
| MEDLINE | ID: mdl-20931536
5.
[Clinical manifestations and mutation study in 16 Chinese patients with Fabry disease].
Zhonghua Yi Xue Za Zhi
; 90(8): 551-4, 2010 Mar 02.
Artículo
en Zh
| MEDLINE | ID: mdl-20367968
6.
[Novel CHST6 compound heterozygous mutations cause macular corneal dystrophy in a Chinese family].
Zhonghua Yan Ke Za Zhi
; 46(2): 161-5, 2010 Feb.
Artículo
en Zh
| MEDLINE | ID: mdl-20388351
7.
Clinical and genetic study of a novel mutation in the REEP1 gene.
Synapse
; 63(3): 201-5, 2009 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-19072839
8.
[Detection of microdeletion in Williams syndrome by multiplex ligation-dependent probe amplification].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 26(4): 369-73, 2009 Aug.
Artículo
en Zh
| MEDLINE | ID: mdl-20017297
9.
[Mutation analysis of the PAH gene in patients with phenylketonuria in Gansu province].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 26(4): 419-22, 2009 Aug.
Artículo
en Zh
| MEDLINE | ID: mdl-20017307
10.
[An analysis of mutations causing Gaucher disease in Chinese population].
Zhonghua Yi Xue Za Zhi
; 89(48): 3397-400, 2009 Dec 29.
Artículo
en Zh
| MEDLINE | ID: mdl-20223112
11.
Array-MLPA: comprehensive detection of deletions and duplications and its application to DMD patients.
Hum Mutat
; 29(1): 190-7, 2008 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-17854090
12.
Nonsense mutation in the CRYBB2 gene causing autosomal dominant progressive polymorphic congenital coronary cataracts.
Mol Vis
; 14: 750-5, 2008 Apr 24.
Artículo
en Inglés
| MEDLINE | ID: mdl-18449377
13.
Clinical and genetic study of SPG6 mutation in a Chinese family with hereditary spastic paraplegia.
J Neurol Sci
; 266(1-2): 109-14, 2008 Mar 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-17928003
14.
[Quantitative analysis of SMN1 and SMN2 genes based on DHPLC: a reliable method for detection of non-homozygous patients with spinal muscular atrophy].
Zhonghua Yi Xue Za Zhi
; 88(18): 1259-63, 2008 May 13.
Artículo
en Zh
| MEDLINE | ID: mdl-18844099
15.
A novel mutation in the EXT2 gene identified in two unrelated Chinese families with hereditary multiple exostoses.
Genet Test
; 11(4): 445-9, 2007.
Artículo
en Inglés
| MEDLINE | ID: mdl-18294062
16.
[The power of linkage analysis on PAH gene in prenatal gene diagnosis is improved with three additional short tandem repeat markers].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 24(4): 382-6, 2007 Aug.
Artículo
en Zh
| MEDLINE | ID: mdl-17680525
17.
[Rapid diagnosis of Down's syndrome by multiplex real-time fluorescence relative quantitative PCR].
Yi Chuan
; 29(8): 934-8, 2007 Aug.
Artículo
en Zh
| MEDLINE | ID: mdl-17681920
18.
[TGFBI gene mutation analysis in a Chinese family with Thiel-Behnke corneal dystrophy].
Zhonghua Yan Ke Za Zhi
; 43(8): 718-21, 2007 Aug.
Artículo
en Zh
| MEDLINE | ID: mdl-18001570
19.
A missense mutation in the gammaD-crystallin gene CRYGD associated with autosomal dominant congenital cataract in a Chinese family.
Mol Vis
; 12: 26-31, 2006 Jan 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-16446699
20.
Erectile dysfunction in Fragile X patients.
Asian J Androl
; 8(4): 483-7, 2006 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-16763726