Detalles de la búsqueda
1.
Utility, benefits, and risks of newborn genetic screening carrier reports for families.
J Glob Health
; 14: 04044, 2024 Feb 23.
Artículo
en Inglés
| MEDLINE | ID: mdl-38389402
2.
[Mutational spectrum of phenylalanine hydroxylase gene and identification of novel mutations in patients with hyperphenylalaninemia in Jiangsu province].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 30(5): 513-7, 2013 Oct.
Artículo
en Zh
| MEDLINE | ID: mdl-24078561
3.
[Development and application of a method for molecular diagnosis of 21-hydroxylase deficiency].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 30(1): 49-54, 2013 Feb.
Artículo
en Zh
| MEDLINE | ID: mdl-23450479
4.
[Molecular diagnosis of OTC gene mutation in a Chinese family with ornithine transcarbamylase deficiency].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 30(2): 195-8, 2013 Apr.
Artículo
en Zh
| MEDLINE | ID: mdl-23568734
5.
[Prenatal diagnosis of 22q11.2 microdeletion by multiplex ligation-dependent probe amplification].
Zhonghua Fu Chan Ke Za Zhi
; 48(11): 824-7, 2013 Nov.
Artículo
en Zh
| MEDLINE | ID: mdl-24444558
6.
Newborn genetic screening is highly effective for high-risk infants: A single-centre study in China.
J Glob Health
; 13: 04128, 2023 Oct 13.
Artículo
en Inglés
| MEDLINE | ID: mdl-37824171
7.
Differential expression profile of MicroRNAs during differentiation of cardiomyocytes exposed to polychlorinated biphenyls.
Int J Mol Sci
; 13(12): 15955-66, 2012 Nov 28.
Artículo
en Inglés
| MEDLINE | ID: mdl-23443104
8.
[Second trimester screening for trisomy 21 using ADAM12-S as a maternal serum marker].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 29(3): 314-8, 2012 Jun.
Artículo
en Zh
| MEDLINE | ID: mdl-22678798
9.
[Detection of 9p partial trisomy using array-based comparative genomic hybridization].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 29(1): 52-5, 2012 Feb.
Artículo
en Zh
| MEDLINE | ID: mdl-22311492
10.
[Array-based comparative genomic hybridization detection of copy number variations in a fetus with hypoplastic left-heart syndrome].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 29(4): 439-42, 2012 Aug.
Artículo
en Zh
| MEDLINE | ID: mdl-22875502
11.
[Cytogenetic analysis of a complex chromosomal imbalance 14q+ in a fetus featuring multiple congenital defects].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 29(2): 214-7, 2012 Apr.
Artículo
en Zh
| MEDLINE | ID: mdl-22487837
12.
[Prenatal diagnosis of two fetuses with de novo small supernumerary markers by single nucleotide polymorphism array based comparative genomic hybridization].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 29(5): 510-4, 2012 Oct.
Artículo
en Zh
| MEDLINE | ID: mdl-23042383
13.
Folic Acid Rescues Valproic Acid-Induced Morphogenesis Inhibition in Neural Rosettes Derived From Human Pluripotent Stem Cells.
Front Cell Neurosci
; 16: 888152, 2022.
Artículo
en Inglés
| MEDLINE | ID: mdl-35651759
14.
Combined genetic screening and traditional biochemical screening to optimize newborn screening systems.
Clin Chim Acta
; 528: 44-51, 2022 Mar 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-35085585
15.
[Application of multiplex ligation-dependent probe amplification for rapid detection of aneuploidies in prenatal diagnosis].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 28(5): 543-7, 2011 Oct.
Artículo
en Zh
| MEDLINE | ID: mdl-21983731
16.
Two factors affecting the success rate of the second non-invasive prenatal screening after initial no-call result: experience from a single tertiary center in China.
Chin Med J (Engl)
; 134(12): 1416-1421, 2021 May 13.
Artículo
en Inglés
| MEDLINE | ID: mdl-33989228
17.
Integrated metagenomics and metabolomics analysis of third-trimester pregnant women with premature membrane rupture: a pilot study.
Ann Transl Med
; 9(23): 1724, 2021 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-35071418
18.
Detection of Vaginal Metabolite Changes in Premature Rupture of Membrane Patients in Third Trimester Pregnancy: a Prospective Cohort Study.
Reprod Sci
; 28(2): 585-594, 2021 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-33025530
19.
[Prenatal genetic study of fetuses with congenital heart diseases].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 26(2): 128-33, 2009 Apr.
Artículo
en Zh
| MEDLINE | ID: mdl-19350500
20.
Local effects of retrovirally transduced endostatin-expressing human umbilical cord blood CD34+ cells on transplanted malignancy in a mouse model of hepatic cancer.
Cell Transplant
; 17(8): 969-75, 2008.
Artículo
en Inglés
| MEDLINE | ID: mdl-19069638