Detalhe da pesquisa
1.
[Clinical application of non-invasive prenatal testing for twin pregnancies].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 41(1): 14-19, 2024 Jan 10.
Artigo
em Chinês
| MEDLINE | ID: mdl-38171553
2.
[Study of GCN repeats of PHOX2B gene among individuals from southwest China and diagnosis of two patients with Congenital central hypoventilation syndrome].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 41(1): 32-37, 2024 Jan 10.
Artigo
em Chinês
| MEDLINE | ID: mdl-38171556
3.
Assessment of Combined Karyotype Analysis and Chromosome Microarray Analysis in Prenatal Diagnosis: A Cohort Study of 3710 Pregnancies.
Genet Res (Camb)
; 2022: 6791439, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36636555
4.
Growth hormone alleviates oxidative stress and improves the IVF outcomes of poor ovarian responders: a randomized controlled trial.
Reprod Biol Endocrinol
; 18(1): 91, 2020 Sep 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32891163
5.
[Prenatal diagnosis of a case of Pallister-Killian syndrome].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 37(7): 771-773, 2020 Jul 10.
Artigo
em Chinês
| MEDLINE | ID: mdl-32619262
6.
[Genetic analysis of a 46,XY female with sex reversal due to duplication of NR0B1 gene].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 35(6): 804-807, 2018 Dec 10.
Artigo
em Chinês
| MEDLINE | ID: mdl-30512150
7.
[Application of quantitative fluorescencet-PCR in the prenatal diagnosis of chromosomale aneuploidies].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 35(2): 228-231, 2018 Apr 10.
Artigo
em Chinês
| MEDLINE | ID: mdl-29652998
8.
[Analysis of genetics mechanism for the phenotypic diversity in a patient carrying a rare ring chromosome 9].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 33(1): 71-5, 2016 Feb.
Artigo
em Chinês
| MEDLINE | ID: mdl-26829739
9.
[Detection of chromosomal aneuploidies in spontaneous abortion samples by fluorescence in situ hybridization].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 32(2): 229-32, 2015 Apr.
Artigo
em Chinês
| MEDLINE | ID: mdl-25863093
10.
Genetic analysis of a pedigree with MECP2 duplication syndrome in China.
BMC Med Genomics
; 17(1): 54, 2024 Feb 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-38373942
11.
[Analysis of 89 amniotic samples using fluorescent in situ hybridization].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 30(2): 214-7, 2013 Apr.
Artigo
em Chinês
| MEDLINE | ID: mdl-23568739
12.
Delineation of an inverted tandem Xq23-26.3 duplication in a female featuring extremely short stature and mild mental deficiency.
Mol Cytogenet
; 16(1): 33, 2023 Nov 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-38031145
13.
Prenatal diagnosis of mosaic chromosomal aneuploidy and uniparental disomy and clinical outcomes evaluation of four fetuses.
Mol Cytogenet
; 16(1): 35, 2023 Dec 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-38057902
14.
Identification of an SRY-negative 46,XX infertility male with a heterozygous deletion downstream of SOX3 gene.
Mol Cytogenet
; 15(1): 2, 2022 Feb 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-35164824
15.
Verification of a cryptic t(Y;15) translocation in a male with an apparent 45,X karyotype.
Mol Cytogenet
; 15(1): 3, 2022 Feb 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-35164811
16.
A novel SRY pathogenic variant from a 46,XY female harboring a nonsense point mutation (G to A) in position 293.
Clin Case Rep
; 9(8): e04706, 2021 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-34466259
17.
Whole exome sequencing identifies c.963T > A and c.492 + 1G > A mutations in REN responsible for autosomal recessive renal tubular dysgenesis.
J Matern Fetal Neonatal Med
; 34(20): 3300-3305, 2021 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-31736371
18.
2+0 CYP21A2 deletion carrier - a limitation of the genetic testing and counseling: A case report.
World J Clin Cases
; 9(23): 6789-6797, 2021 Aug 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-34447826
19.
Characterization of porcine factor VII, X and comparison with human factor VII, X.
Blood Cells Mol Dis
; 43(1): 111-8, 2009.
Artigo
em Inglês
| MEDLINE | ID: mdl-19286401
20.
Reference values of clinical chemistry and hematology parameters in rhesus monkeys (Macaca mulatta).
Xenotransplantation
; 16(6): 496-501, 2009.
Artigo
em Inglês
| MEDLINE | ID: mdl-20042049