Detalhe da pesquisa
1.
[Application of whole exome sequencing for the inferential analysis of recessive genetic disease carrier status for couples with a child died of Primary immunodeficiency].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 41(2): 134-139, 2024 Feb 10.
Artigo
em Chinês
| MEDLINE | ID: mdl-38311549
2.
[Expert consensus on the genetic diagnosis for Dystrophinopathies].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 40(8): 909-914, 2023 Aug 10.
Artigo
em Chinês
| MEDLINE | ID: mdl-37532487
3.
[Genetic analysis of a Chinese pedigree with Cohen syndrome due to compound heterozygous variants of VPS13B gene].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 40(8): 966-972, 2023 Aug 10.
Artigo
em Chinês
| MEDLINE | ID: mdl-37532496
4.
[Expert consensus on the application of prenatal exome sequencing for fetal structural anomalies].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 39(5): 457-463, 2022 May 10.
Artigo
em Chinês
| MEDLINE | ID: mdl-35598257
5.
[Analysis of a Chinese pedigree affected with dyschromatosis symmetrica hereditaria due to a novel variant of ADAR gene].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 39(1): 64-67, 2022 Jan 10.
Artigo
em Chinês
| MEDLINE | ID: mdl-34964970
6.
[Genetic analysis and prenatal diagnosis of a Chinese pedigree affected with Usher syndrome due to novel compound heterozygous variants of PCDH15 gene].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 39(3): 305-308, 2022 Mar 10.
Artigo
em Chinês
| MEDLINE | ID: mdl-35315041
7.
[Analysis of a child with mental retardation due to a de novo variant of the KAT6A gene].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 39(12): 1385-1389, 2022 Dec 10.
Artigo
em Chinês
| MEDLINE | ID: mdl-36453964
8.
[Application of genomic copy number variation detection technology in prenatal diagnosis of 7617 pregnant women with serological screening abnormalities during the second trimester of pregnancy].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 39(5): 468-473, 2022 May 10.
Artigo
em Chinês
| MEDLINE | ID: mdl-35598259
9.
[Identification of SPAST gene variant in a pedigree affected with hereditary spastic paraplegia type 4].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 37(11): 1261-1264, 2020 Nov 10.
Artigo
em Chinês
| MEDLINE | ID: mdl-33179235
10.
[Genetic analysis of a patient with late infantile metachromatic leukodystrophy].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 37(2): 153-155, 2020 Feb 10.
Artigo
em Chinês
| MEDLINE | ID: mdl-32034743
11.
[Prenatal diagnosis of partial trisomy 3q in a fetus].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 36(8): 813-816, 2019 Aug 10.
Artigo
em Chinês
| MEDLINE | ID: mdl-31400135
12.
[Identification of two novel Parkin gene mutations in a patient affected with Juvenile Parkinson's syndrome].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 36(4): 344-347, 2019 Apr 10.
Artigo
em Chinês
| MEDLINE | ID: mdl-30950022
13.
[A novel compound heterozygous mutation of GNPTAB gene underlying a case with mucolipidosis type II α/ß].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 36(6): 606-609, 2019 Jun 10.
Artigo
em Chinês
| MEDLINE | ID: mdl-31055817
14.
[Genetic analysis of a pedigree affected with Bartter's syndrome].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 36(7): 701-703, 2019 Jul 10.
Artigo
em Chinês
| MEDLINE | ID: mdl-31302915
15.
[Prenatal diagnosis of a fetus affected with Finnish type congenital nephrotic syndrome].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 36(10): 1022-1024, 2019 Oct 10.
Artigo
em Chinês
| MEDLINE | ID: mdl-31598951
16.
[Analysis of WAS gene mutation in a Chinese family affected with Wiskott-Aldrich syndrome].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 35(2): 207-209, 2018 Apr 10.
Artigo
em Chinês
| MEDLINE | ID: mdl-29652993
17.
[Identification of a novel EXT1 mutation in a pedigree affected with hereditary multiple exostosis].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 35(1): 91-95, 2018 Feb 10.
Artigo
em Chinês
| MEDLINE | ID: mdl-29419870
18.
[Phenotypic and genetic analysis of a child carrying a 17q11.2 microdeletion].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 34(5): 695-698, 2017 Oct 10.
Artigo
em Chinês
| MEDLINE | ID: mdl-28981936
19.
CaMKII γ, a critical regulator of CML stem/progenitor cells, is a target of the natural product berbamine.
Blood
; 120(24): 4829-39, 2012 Dec 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-23074277
20.
Competing Endogenous RNAs Crosstalk in Hippocampus: A Potential Mechanism for Neuronal Developing Defects in Down Syndrome.
J Mol Neurosci
; 74(2): 32, 2024 Mar 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-38536538