Detalhe da pesquisa
1.
Reevaluating the splice-altering variant in TECTA as a cause of nonsyndromic hearing loss DFNA8/12 by functional analysis of RNA.
Hum Mol Genet
; 2024 Apr 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-38676628
2.
In Vitro Inhibitory Effects of Maqian Essential Oil against Ectopic Endometrial Stromal Cells and LPS-Induced Endometrial Epithelial Cells.
Chem Biodivers
; 19(12): e202200756, 2022 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-36377549
3.
Wooden-Tip Electrospray Mass Spectrometry Characterization of Human Hemoglobin in Whole Blood Sample for Thalassemia Screening: A Pilot Study.
Molecules
; 27(12)2022 Jun 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-35745074
4.
[Prenatal diagnosis of a fetus with 8q13.3 microdeletion through chromosomal microarray analysis].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 38(3): 268-270, 2021 Mar 10.
Artigo
em Chinês
| MEDLINE | ID: mdl-33751539
5.
A novel TAB2 nonsense mutation (p.S149X) causing autosomal dominant congenital heart defects: a case report of a Chinese family.
BMC Cardiovasc Disord
; 20(1): 27, 2020 01 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-31959127
6.
A Novel ß-Thalassemia Mutation [IVS-I-6 (T>G), HBB: c.92+6T>G] in a Chinese Family.
Hemoglobin
; 44(1): 55-57, 2020 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-31939318
7.
[Genetic analysis and prenatal diagnosis for a Chinese pedigree affected with N-acetylglutamate synthase deficiency].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 37(12): 1360-1363, 2020 Dec 10.
Artigo
em Chinês
| MEDLINE | ID: mdl-33306822
8.
[Study of the phenylalanine hydroxylase gene variants in patients with phenylketonuria from Jiangxi province].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 36(11): 1057-1061, 2019 Nov 10.
Artigo
em Chinês
| MEDLINE | ID: mdl-31703125
9.
Identification of rare RTN3 variants in Alzheimer's disease in Han Chinese.
Hum Genet
; 137(2): 141-150, 2018 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-29356939
10.
Taxifolin enhances osteogenic differentiation of human bone marrow mesenchymal stem cells partially via NF-κB pathway.
Biochem Biophys Res Commun
; 490(1): 36-43, 2017 08 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-28579433
11.
Novel GATAD2B loss-of-function mutations cause intellectual disability in two unrelated cases.
J Hum Genet
; 62(4): 513-516, 2017 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-28077840
12.
Effects of Commonly Used Pesticides in China on the Mitochondria and Ubiquitin-Proteasome System in Parkinson's Disease.
Int J Mol Sci
; 18(12)2017 Nov 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-29168786
13.
A novel de novo POGZ mutation in a patient with intellectual disability.
J Hum Genet
; 61(4): 357-9, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-26763879
14.
Baicalein induces human osteosarcoma cell line MG-63 apoptosis via ROS-induced BNIP3 expression.
Tumour Biol
; 36(6): 4731-40, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-25618603
15.
Evaluating ClinGen variant curation expert panels' application of PVS1 code.
Eur J Med Genet
; 67: 104909, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-38199457
16.
Screening and mutation analysis of phenylalanine hydroxylase deficiency in newborns from Jiangxi province.
Front Genet
; 14: 1049816, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-36845377
17.
Analysis of chromosomal structural variations in patients with recurrent spontaneous abortion using optical genome mapping.
Front Genet
; 14: 1248755, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37732322
18.
Identification of two novel and one rare mutation in DYRK1A and prenatal diagnoses in three Chinese families with intellectual Disability-7.
Front Genet
; 14: 1290949, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-38179410
19.
Identification of five novel SCN1A variants.
Front Behav Neurosci
; 17: 1272748, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-38025388
20.
Identification of a Novel Nonsense Mutation in PLA2G6 and Prenatal Diagnosis in a Chinese Family With Infantile Neuroaxonal Dystrophy.
Front Neurol
; 13: 904027, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35873758