Detalhe da pesquisa
1.
PLPPR4 haploinsufficiency causes neurodevelopmental disorders by disrupting synaptic plasticity via mTOR signalling.
J Cell Mol Med
; 27(21): 3286-3295, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37550884
2.
Glycerol-3-Phosphate Acyltransferase GPAT9 Enhanced Seed Oil Accumulation and Eukaryotic Galactolipid Synthesis in Brassica napus.
Int J Mol Sci
; 24(22)2023 Nov 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-38003299
3.
Novel compound heterozygous synonymous and missense variants in the MYO7A gene identified by next-generation sequencing in a Chinese family with nonsyndromic hearing loss.
J Clin Lab Anal
; 36(11): e24708, 2022 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-36164746
4.
[Analysis of ARID1B gene variants in two Chinese pedigrees with Coffin-Siris syndrome].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 39(3): 282-285, 2022 Mar 10.
Artigo
em Zh
| MEDLINE | ID: mdl-35315036
5.
Localization of nerve entry points and the center of intramuscular nerve-dense regions in the adult pectoralis major and pectoralis minor and its significance in blocking muscle spasticity.
J Anat
; 239(5): 1123-1133, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34176122
6.
Genetic analysis and prenatal diagnosis of 20 Chinese families with oculocutaneous albinism.
J Clin Lab Anal
; 35(2): e23647, 2021 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-33124154
7.
The variations in human orphan G protein-coupled receptor QRFPR affect PI3K-AKT-mTOR signaling.
J Clin Lab Anal
; 35(7): e23822, 2021 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-34018631
8.
The distal arthrogryposis-linked p.R63C variant promotes the stability and nuclear accumulation of TNNT3.
J Clin Lab Anal
; 35(12): e24089, 2021 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-34766372
9.
Expression of AhATL1, an ABA Transport Factor Gene from Peanut, Is Affected by Altered Memory Gene Expression Patterns and Increased Tolerance to Drought Stress in Arabidopsis.
Int J Mol Sci
; 22(7)2021 Mar 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-33806243
10.
[Analysis of genetic variation for a child affected with congenital insensitivity to pain with anhidrosis and albinism by whole genome sequencing].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 38(5): 472-476, 2021 May 10.
Artigo
em Zh
| MEDLINE | ID: mdl-33974259
11.
Koala retrovirus diversity, transmissibility, and disease associations.
Retrovirology
; 17(1): 34, 2020 10 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33008414
12.
Plastid Glycerol-3-phosphate Acyltransferase Enhanced Plant Growth and Prokaryotic Glycerolipid Synthesis in Brassica napus.
Int J Mol Sci
; 21(15)2020 Jul 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-32727046
13.
[Analysis of TWNK variant in a family affected with Perrault syndrome].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 37(7): 739-742, 2020 Jul 10.
Artigo
em Zh
| MEDLINE | ID: mdl-32619254
14.
Diagnosing malignant pleural effusion using clinical and analytical parameters.
J Clin Lab Anal
; 33(2): e22689, 2019 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-30390322
15.
[Analysis of MYH3 gene variation and prenatal diagnosis for two pedigrees affected with congenital arthrogryposis].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 36(5): 447-450, 2019 May 10.
Artigo
em Zh
| MEDLINE | ID: mdl-31030430
16.
[Variant analysis for a pedigree affected with limb-girdle muscular dystrophy type 2D].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 36(2): 136-139, 2019 Feb 10.
Artigo
em Zh
| MEDLINE | ID: mdl-30703231
17.
[Analysis of SACS mutation in a family affected with autosomal recessive spastic ataxia of Charlevoix-Saguenay].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 36(3): 217-220, 2019 Mar 10.
Artigo
em Zh
| MEDLINE | ID: mdl-30835349
18.
[Mutation analysis and prenatal diagnosis for 50 pedigrees affected with Duchenne/Becker muscular dystrophy].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 35(2): 169-174, 2018 Apr 10.
Artigo
em Zh
| MEDLINE | ID: mdl-29652985
19.
[Whole exome sequencing analysis for a Chinese pedigree affected with X-Linked intellectual disability].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 35(3): 403-407, 2018 Jun 10.
Artigo
em Zh
| MEDLINE | ID: mdl-29896742
20.
[Clearance of free fetal DNA after delivery of fetuses carrying chromosomal aneuploidies].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 34(2): 183-186, 2017 Apr 10.
Artigo
em Zh
| MEDLINE | ID: mdl-28397214