Detalhe da pesquisa
1.
Three-way contact analysis characterizes the higher order organization of the Tcra locus.
Nucleic Acids Res
; 51(17): 8987-9000, 2023 09 22.
Artigo
Inglês
| MEDLINE | ID: mdl-37534534
2.
[Clinical features and genetic analysis of 17 Chinese pedigrees affected with X-linked intellectual disability].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 41(5): 533-539, 2024 May 10.
Artigo
Chinês
| MEDLINE | ID: mdl-38684296
3.
[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
Chinês
| MEDLINE | ID: mdl-38311549
4.
Integration of ATAC-seq and RNA-seq identifies MX1-mediated AP-1 transcriptional regulation as a therapeutic target for Down syndrome.
Biol Res
; 56(1): 67, 2023 Dec 09.
Artigo
Inglês
| MEDLINE | ID: mdl-38066591
5.
[Expert consensus on the genetic diagnosis for Dystrophinopathies].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 40(8): 909-914, 2023 Aug 10.
Artigo
Chinês
| MEDLINE | ID: mdl-37532487
6.
[Clinical and genetic analysis of two children with intellectual developmental disorder and microcephaly with pontine and cerebellar hypoplasia].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 40(4): 408-412, 2023 Apr 10.
Artigo
Chinês
| MEDLINE | ID: mdl-36972933
7.
[Clinical features and genetic analysis of two Chinese pedigrees affected with Joubert syndrome].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 40(1): 21-25, 2023 Jan 10.
Artigo
Chinês
| MEDLINE | ID: mdl-36584995
8.
[Analysis of a fetus with unbalanced translocation derived from a balanced t(6;14) maternal translocation].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 40(2): 230-233, 2023 Feb 10.
Artigo
Chinês
| MEDLINE | ID: mdl-36709947
9.
[Prenatal genetic analysis of a fetus with Miller-Dieker syndrome].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 40(4): 505-511, 2023 Apr 10.
Artigo
Chinês
| MEDLINE | ID: mdl-36972951
10.
[Genetic analysis of two children with developmental delay and intellectual disability].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 40(7): 876-880, 2023 Jul 10.
Artigo
Chinês
| MEDLINE | ID: mdl-37368394
11.
Genome sequencing demonstrates high diagnostic yield in children with undiagnosed global developmental delay/intellectual disability: A prospective study.
Hum Mutat
; 43(5): 568-581, 2022 05.
Artigo
Inglês
| MEDLINE | ID: mdl-35143101
12.
A Novel Variant of the KIF11 Gene, c.2922G>T, Is Associated with Microcephaly by Affecting RNA Splicing.
Dev Neurosci
; 44(2): 113-120, 2022.
Artigo
Inglês
| MEDLINE | ID: mdl-34965526
13.
Different effects of maternal homocysteine concentration, MTHFR and MTRR genetic polymorphisms on the occurrence of fetal aneuploidy.
Reprod Biomed Online
; 45(6): 1207-1215, 2022 12.
Artigo
Inglês
| MEDLINE | ID: mdl-36210274
14.
[Analysis of CNTNAP1 gene variants in a Chinese pedigree affected with lethal congenital contracture syndrome type 7].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 39(2): 194-197, 2022 Feb 10.
Artigo
Chinês
| MEDLINE | ID: mdl-35076918
15.
[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
Chinês
| MEDLINE | ID: mdl-34964970
16.
[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
Chinês
| MEDLINE | ID: mdl-35315041
17.
Obstetric outcomes for twins from different conception methods - A multicenter cross-sectional study from China.
Acta Obstet Gynecol Scand
; 100(6): 1061-1067, 2021 06.
Artigo
Inglês
| MEDLINE | ID: mdl-33556189
18.
[Genetic analysis of a pedigree with atypical partial 4q trisomy].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 38(12): 1245-1249, 2021 Dec 10.
Artigo
Chinês
| MEDLINE | ID: mdl-34839517
19.
[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
Chinês
| MEDLINE | ID: mdl-33179235
20.
[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
Chinês
| MEDLINE | ID: mdl-32034743