Detalhe da pesquisa
1.
Utility of labial salivary gland biopsy in the histological diagnosis of neuronal intranuclear inclusion disease.
Eur J Neurol
; 31(1): e16102, 2024 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37823700
2.
Mutation landscape of TSC1/TSC2 in Chinese patients with tuberous sclerosis complex.
J Hum Genet
; 66(3): 227-236, 2021 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-32917966
3.
Hepatic Autophagy Deficiency Compromises Farnesoid X Receptor Functionality and Causes Cholestatic Injury.
Hepatology
; 69(5): 2196-2213, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30520052
4.
Mutation Analysis of Three Infantile Cases of X-linked Severe Combined Immunodeficiency.
Clin Lab
; 66(1)2020 Jan 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32013372
5.
Whole exome sequencing approach for identification of the molecular etiology in pediatric patients with hematuria.
Clin Chim Acta
; 554: 117795, 2024 Feb 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38262496
6.
A novel deletion of -2.8 kb removing the entire alpha 2-globin gene observed in a Chinese patient with Hb H.
Clin Lab
; 58(11-12): 1309-12, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-23289204
7.
Identification of two aberrant transcripts by RNA sequencing for a novel variant c.3354 + 5 G > A of MED12 in a Chinese girl with non-syndromic intellectual disability.
Clin Chim Acta
; 532: 137-144, 2022 Jul 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35690084
8.
Identification of a Novel Deep Intronic Variant by Whole Genome Sequencing Combined With RNA Sequencing in a Chinese Patient With Menkes Disease.
Front Genet
; 13: 852764, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35432457
9.
Detection of α-globin gene deletion and duplication using quantitative multiplex PCR of short fluorescent fragments.
Clin Chem Lab Med
; 50(4): 649-54, 2011 Dec 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-22505528
10.
Two cases of Fanconi-Bickel syndrome: first report from China with novel mutations of SLC2A2 gene.
J Pediatr Endocrinol Metab
; 24(9-10): 749-53, 2011.
Artigo
em Inglês
| MEDLINE | ID: mdl-22145468
11.
Hepatitis C virus genotypes and subtypes circulating in Mainland China.
Emerg Microbes Infect
; 6(11): e95, 2017 Nov 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29089588
12.
Gene Expression Analysis Indicates Divergent Mechanisms in DEN-Induced Carcinogenesis in Wild Type and Bid-Deficient Livers.
PLoS One
; 11(5): e0155211, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-27196317
13.
Development of a novel DNA sequencing method not only for hepatitis B virus genotyping but also for drug resistant mutation detection.
BMC Med Genomics
; 6 Suppl 1: S15, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-23369292
14.
[Polymorphism of DXS15, CA13, CA22 loci in Guangdong normal population].
Zhongguo Shi Yan Xue Ye Xue Za Zhi
; 17(6): 1569-72, 2009 Dec.
Artigo
em Chinês
| MEDLINE | ID: mdl-20030949
15.
[Screening of proteins binding to FXR1P using yeast two-hybrid technique].
Nan Fang Yi Ke Da Xue Xue Bao
; 29(12): 2394-6, 2400, 2009 Dec.
Artigo
em Chinês
| MEDLINE | ID: mdl-20034884