Detalles de la búsqueda
1.
[Analysis of KIF1A gene variant in a Chinese pedigree affected with Spastic paraplegia type 30].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 40(4): 419-422, 2023 Apr 10.
Artículo
en Zh
| MEDLINE | ID: mdl-36972935
2.
Correlation between SAP2 and CAP1 in clinical strains of Candida albicans at planktonic and biofilm states.
Can J Microbiol
; 68(12): 722-730, 2022 Dec 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-36162133
3.
[Analysis of PKD2 gene variant and protein localization in a pedigree affected with polycystic kidney disease].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 38(1): 47-51, 2021 Jan 10.
Artículo
en Zh
| MEDLINE | ID: mdl-33423257
4.
[Identification of a novel SOD1 variant in a Chinese patient with amyotrophic lateral sclerosis].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 38(12): 1224-1227, 2021 Dec 10.
Artículo
en Zh
| MEDLINE | ID: mdl-34839512
5.
GJB2 c.235delC variant associated with autosomal recessive nonsyndromic hearing loss and auditory neuropathy spectrum disorder.
Genet Mol Biol
; 42(1): 48-51, 2019.
Artículo
en Inglés
| MEDLINE | ID: mdl-30816908
6.
Effect of cauterizing esophageal mucosa in "double-patch" treatment for acquired benign tracheoesophageal fistula/bronchogastric stump fistula.
J Surg Res
; 209: 1-7, 2017 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-28032545
7.
EGFR mutations in surgically resected fresh specimens from 697 consecutive Chinese patients with non-small cell lung cancer and their relationships with clinical features.
Int J Mol Sci
; 14(12): 24549-59, 2013 Dec 17.
Artículo
en Inglés
| MEDLINE | ID: mdl-24351833
8.
[Screening for EXT1 and EXT2 gene mutations in a ethnic Han Chinese family from Shanxi with hereditary multiple exostoses].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 30(1): 95-8, 2013 Feb.
Artículo
en Zh
| MEDLINE | ID: mdl-23450490
9.
[Correlations of integrons and resistance gene cassettes in Gram-negative bacteria with multi-drug resistance].
Zhonghua Yi Xue Za Zhi
; 93(46): 3698-702, 2013 Dec.
Artículo
en Zh
| MEDLINE | ID: mdl-24534354
10.
Relationships between Secreted Aspartyl Proteinase 2 and General Control Nonderepressible 4 gene in the Candida albicans resistant to itraconazole under planktonic and biofilm conditions.
Braz J Microbiol
; 54(2): 619-627, 2023 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-37087512
11.
Mutations of the phenylalanine hydroxylase gene in patients with phenylketonuria in Shanxi, China.
Genet Mol Biol
; 35(4): 709-13, 2012 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-23271928
12.
[Detection of exon 7 mutations of PAH gene in classical phenylketonuria by high-resolution melting analysis].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 29(6): 683-5, 2012 Dec.
Artículo
en Zh
| MEDLINE | ID: mdl-23225049
13.
Case Report: A Missense Mutation in Dyskeratosis Congenita 1 Leads to a Benign Form of Dyskeratosis Congenita Syndrome With the Mucocutaneous Triad.
Front Pediatr
; 10: 834268, 2022.
Artículo
en Inglés
| MEDLINE | ID: mdl-35463902
14.
Genetic and functional analyses detect an EXT1 splicing pathogenic variant in a Chinese hereditary multiple exostosis (HME) family.
Mol Genet Genomic Med
; 10(3): e1878, 2022 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-35106951
15.
[Study on the mutations of phenylalanine hydroxylase gene in patients with phenylketonuria in Shanxi province].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 28(4): 393-6, 2011 Aug.
Artículo
en Zh
| MEDLINE | ID: mdl-21811977
16.
The adenovirus-mediated transfer of PTEN inhibits the growth of esophageal cancer cells in vitro and in vivo.
Biosci Biotechnol Biochem
; 74(4): 736-40, 2010.
Artículo
en Inglés
| MEDLINE | ID: mdl-20378992
17.
[Screening metastasis-associated genes from anoikis resistant A549 lung cancer cells by human genome array].
Zhongguo Fei Ai Za Zhi
; 13(1): 22-7, 2010 Jan.
Artículo
en Zh
| MEDLINE | ID: mdl-20672699
18.
A novel splicing pathogenic variant in COL1A1 causing osteogenesis imperfecta (OI) type I in a Chinese family.
Mol Genet Genomic Med
; 8(9): e1366, 2020 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-32588564
19.
Identification of a novel compound heterozygous IDUA mutation underlies Mucopolysaccharidoses type I in a Chinese pedigree.
Mol Genet Genomic Med
; 8(1): e1058, 2020 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-31758674
20.
Preliminary evaluation and discussion of the safety of left innominate vein resection.
J Thorac Dis
; 12(3): 438-447, 2020 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-32274110