Detalhe da pesquisa
1.
Identification of a novel TBX5 c.755 + 1 G > A variant and related pathogenesis in a family with Holt-Oram syndrome.
Am J Med Genet A
; 188(1): 58-70, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34490705
2.
Chromosomal aneuploidies and copy number variations in posterior fossa abnormalities diagnosed by prenatal ultrasonography.
Prenat Diagn
; 37(11): 1160-1168, 2017 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-28940600
3.
Prenatal Diagnosis of a Case of Norrie Disease with Late Development of Bilateral Ocular Malformation.
Fetal Pediatr Pathol
; 36(3): 240-245, 2017 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-28394646
4.
MCDA twins with discordant malformations: submicroscopic chromosomal anomalies detected by chromosomal microarray analysis and clinical outcomes.
Prenat Diagn
; 36(8): 766-74, 2016 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-27315788
5.
Prenatal diagnosis of submicroscopic chromosomal aberrations in fetuses with ventricular septal defects by chromosomal microarray-based analysis.
Prenat Diagn
; 36(13): 1178-1184, 2016 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-27794163
6.
[Investigation of ultrasound markers in screening fetal trisomy 21].
Zhonghua Fu Chan Ke Za Zhi
; 48(2): 81-5, 2013 Feb.
Artigo
em Zh
| MEDLINE | ID: mdl-23544486
7.
[Spectral karyotyping of seven prenatally detected marker chromosomes and complex chromosome aberrations].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 29(4): 393-7, 2012 Aug.
Artigo
em Zh
| MEDLINE | ID: mdl-22875493
8.
[Combined use of molecular cytogenetic techniques to detect a small chromosomal translocation].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 28(5): 568-71, 2011 Oct.
Artigo
em Zh
| MEDLINE | ID: mdl-21983737
9.
[Clinical features of abnormal chromosome karyotypes in twin pregnancies complicated with structural abnormalities].
Zhonghua Fu Chan Ke Za Zhi
; 46(9): 649-54, 2011 Sep.
Artigo
em Zh
| MEDLINE | ID: mdl-22176987
10.
[Middle segment pancreatectomy for the benign tumors of the neck and body of the pancreas (report of 15 cases)].
Zhonghua Wai Ke Za Zhi
; 48(18): 1402-4, 2010 Sep 15.
Artigo
em Zh
| MEDLINE | ID: mdl-21092576
11.
Elevated Prevalence of Abnormal Glucose Metabolism and Other Endocrine Disorders in Patients with ß-Thalassemia Major: A Meta-Analysis.
Biomed Res Int
; 2019: 6573497, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31119181
12.
[Gene therapy targeting for carcinoma regulated by E2F-1 promoter].
Zhonghua Wai Ke Za Zhi
; 44(23): 1636-9, 2006 Dec 01.
Artigo
em Zh
| MEDLINE | ID: mdl-17359698
13.
Improved assay performance of single nucleotide polymorphism array over conventional karyotyping in analyzing products of conception.
J Chin Med Assoc
; 78(7): 408-13, 2015 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-26004737