Detalhe da pesquisa
1.
[Prenatal diagnosis and genetic analysis of a rare case with 8p deletion and duplication].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 40(1): 96-100, 2023 Jan 10.
Artigo
em Zh
| MEDLINE | ID: mdl-36585010
2.
[Clinical and genetic analysis of a patient with 10q26.3 microdeletion in conjunct with 18q22.3q23 microduplication].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 39(12): 1415-1418, 2022 Dec 10.
Artigo
em Zh
| MEDLINE | ID: mdl-36453971
3.
[Application of chromosomal microarray analysis in the diagnosis of genetic etiology of spontaneous abortions].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 39(8): 903-906, 2022 Aug 10.
Artigo
em Zh
| MEDLINE | ID: mdl-35929946
4.
[Genetic analysis of a case with a supernumerary marker derived from chromosome 9].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 39(12): 1410-1414, 2022 Dec 10.
Artigo
em Zh
| MEDLINE | ID: mdl-36453970
5.
[The value of combined detection of HbA2 and HbF for the screening of thalassemia among individuals of childbearing ages].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 39(1): 16-20, 2022 Jan 10.
Artigo
em Zh
| MEDLINE | ID: mdl-34964959
6.
Application of the BACs-on-Beads assay for the prenatal diagnosis of chromosomal abnormalities in Quanzhou, China.
BMC Pregnancy Childbirth
; 21(1): 94, 2021 Jan 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-33509128
7.
[A case of neonatal Cornelia de Lange syndrome caused by a novel variant of SMC1A gene].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 38(11): 1132-1135, 2021 Nov 10.
Artigo
em Zh
| MEDLINE | ID: mdl-34729759
8.
[Non-invasive prenatal testing and genetic diagnosis of a case of Pallister-Killian syndrome].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 38(10): 997-1001, 2021 Oct 10.
Artigo
em Zh
| MEDLINE | ID: mdl-34625941
9.
[Molecular genetic analysis of a child with de novo 16p11.2 microdeletion].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 37(11): 1283-1286, 2020 Nov 10.
Artigo
em Zh
| MEDLINE | ID: mdl-33179241
10.
[Clinical and genetic study of a child with 15q11.2 microduplication].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 37(1): 64-66, 2020 Jan 10.
Artigo
em Zh
| MEDLINE | ID: mdl-31922600
11.
Molecular analysis of a large novel deletion causing α+-thalassemia.
BMC Med Genet
; 20(1): 74, 2019 05 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-31060505
12.
[Analysis a family with partial Xq deletion].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 34(5): 688-690, 2017 Oct 10.
Artigo
em Zh
| MEDLINE | ID: mdl-28981934
13.
A First Clinical and Molecular Study of Rare IVS-II-806 (G > C) (HBB:c.316-45G > C) Variant in the ß-globin Gene: A Possibly Benign Variant.
Indian J Hematol Blood Transfus
; 39(1): 102-106, 2023 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-36699435
14.
Etiological identification of recurrent male fatality due to a novel NSDHL gene mutation using trio whole-exome sequencing: A rare case report and literature review.
Mol Genet Genomic Med
; 11(3): e2121, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36504312
15.
A de novo PAK1 likely pathogenic variant and a de novo terminal 1q microdeletion in a Chinese girl with global developmental delay, severe intellectual disability, and seizures.
BMC Med Genomics
; 16(1): 3, 2023 01 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-36624491
16.
Third-Generation Sequencing as a New Comprehensive Technology for Identifying Rare α- and ß-Globin Gene Variants in Thalassemia Alleles in the Chinese Population.
Arch Pathol Lab Med
; 147(2): 208-214, 2023 02 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35639603
17.
[Genetic Analysis and Prenatal Diagnosis of Thalassemia in Couples of Childbearing Age in Quanzhou Region Fujian Province, China].
Zhongguo Shi Yan Xue Ye Xue Za Zhi
; 30(1): 217-221, 2022 Feb.
Artigo
em Zh
| MEDLINE | ID: mdl-35123630
18.
Molecular cytogenetic analysis of partial monosomy 10p and trisomy 10q resulting from familial pericentric inversion (10): a first case report in Chinese population.
Mol Cytogenet
; 15(1): 22, 2022 Jun 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35672790
19.
Case Report: Prenatal Diagnosis of a Novel Variant c.251dupT (p.N87Kfs*6) in BCOR Resulting in Oculofaciocardiodental Syndrome Using Whole-Exome Sequencing.
Front Genet
; 13: 829613, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35401667
20.
Identification of a Rare Variant of c.1777G>A (p.G593S) in the COL1A1 Gene as the Etiology of Recurrent Osteogenesis Imperfecta by Whole-Exome Sequencing.
Front Pediatr
; 10: 816090, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35463886