Detalhe da pesquisa
1.
LINC01852 inhibits the tumorigenesis and chemoresistance in colorectal cancer by suppressing SRSF5-mediated alternative splicing of PKM.
Mol Cancer
; 23(1): 23, 2024 01 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-38263157
2.
Variations in mitochondrial DNA coding and D-loop region are associated with early embryonic development defects in infertile women.
Hum Genet
; 142(2): 193-200, 2023 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-36352239
3.
Metabolomic and transcriptomic analysis of roots of tobacco varieties resistant and susceptible to bacterial wilt.
Genomics
; 114(5): 110471, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-36055574
4.
Emerging porous organic polymers for biomedical applications.
Chem Soc Rev
; 51(4): 1377-1414, 2022 Feb 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-35043817
5.
[Analysis of novel compound heterozygous variants of the GJA8 gene in a child with congenital cataract].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 39(11): 1262-1265, 2022 Nov 10.
Artigo
em Zh
| MEDLINE | ID: mdl-36317215
6.
[Identification of a novel variant of NHS gene underlying Nance-Horan syndrome].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 38(11): 1077-1080, 2021 Nov 10.
Artigo
em Zh
| MEDLINE | ID: mdl-34729747
7.
[A case of tuberous sclerosis complex due to a novel splicing variant of TSC2 gene].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 38(6): 553-556, 2021 Jun 10.
Artigo
em Zh
| MEDLINE | ID: mdl-34096024
8.
A nonsense variant in FBN1 caused autosomal dominant Marfan syndrome in a Chinese family: a case report.
BMC Med Genet
; 21(1): 211, 2020 10 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-33087052
9.
Polyvinyl chloride gels microlens array with a well-controlled curvature obtained by solvent evaporation under DC electric fields.
Opt Express
; 28(20): 29285-29295, 2020 Sep 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-33114831
10.
[Analysis of MECP2 gene variants in three pedigrees affected with Rett syndrome].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 37(9): 968-971, 2020 Sep 10.
Artigo
em Zh
| MEDLINE | ID: mdl-32820509
11.
[Identification of a novel variant of COL4A5 gene in a pedigree affected with Alport syndrome].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 37(8): 807-810, 2020 Aug 10.
Artigo
em Zh
| MEDLINE | ID: mdl-32761583
12.
[Identification of a novel splicing variant of IDS gene in a pedigree affected with type II glycosaminoglycan product storage disease].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 37(7): 713-716, 2020 Jul 10.
Artigo
em Zh
| MEDLINE | ID: mdl-32619248
13.
A novel splicing mutation in the PKD1 gene causes autosomal dominant polycystic kidney disease in a Chinese family: a case report.
BMC Med Genet
; 19(1): 198, 2018 11 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-30424739
14.
[Application of droplet digital PCR for non-invasive prenatal diagnosis of single gene disease in two families].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 35(2): 224-227, 2018 Apr 10.
Artigo
em Zh
| MEDLINE | ID: mdl-29652997
15.
[Novel mutations of XPC gene detected in a family affected with xeroderma pigmentosum group C].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 35(4): 540-543, 2018 Aug 10.
Artigo
em Zh
| MEDLINE | ID: mdl-30098252
16.
[Identification of a novel splicing mutation of PHEX gene in a pedigree affected with X-linked hypophosphatemia].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 34(2): 216-219, 2017 Apr 10.
Artigo
em Zh
| MEDLINE | ID: mdl-28397222
17.
[A novel mutation of GLI3 gene underlying synpolydactyly in a family].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 34(4): 490-493, 2017 Aug 10.
Artigo
em Zh
| MEDLINE | ID: mdl-28777844
18.
[A novel pathogenic mutation of CRYGD gene in a congenital cataract family].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 33(4): 515-8, 2016 Aug.
Artigo
em Zh
| MEDLINE | ID: mdl-27455011
19.
[Identification of a novel splicing mutation of PKD1 gene in a pedigree affected with autosomal dominant polycystic kidney disease].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 33(6): 778-781, 2016 Dec 10.
Artigo
em Zh
| MEDLINE | ID: mdl-27984604
20.
[Application of droplet digital PCR technology for genetic testing and prenatal diagnosis of spinal muscular atrophy].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 33(5): 594-7, 2016 Oct.
Artigo
em Zh
| MEDLINE | ID: mdl-27577201