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1.
Results of a Pilot External Quality Assessment Scheme for Genetic Testing of Newborns with Spinal Muscular Atrophy.
Clin Lab
; 70(5)2024 May 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-38747911
2.
Discordant performances of non-invasive prenatal testing for foetal trisomy 21 screening in subgroups of pregnancies.
J Obstet Gynaecol
; 43(2): 2288226, 2023 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-38054928
3.
Targeted exome sequencing strategy (NeoEXOME) for Chinese newborns using a pilot study with 3423 neonates.
Mol Genet Genomic Med
; 12(1): e2357, 2024 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-38284445
4.
Decreased PPP1R3G in pre-eclampsia impairs human trophoblast invasion and migration via Akt/MMP-9 signaling pathway.
Exp Biol Med (Maywood)
; 248(16): 1373-1382, 2023 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-37642261
5.
Development of a fast and robust liquid chromatography-mass spectrometry-based metabolomics analysis method for neonatal dried blood spots.
J Pharm Biomed Anal
; 230: 115383, 2023 Jun 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-37054601
6.
Clinical utilization of chromosomal microarray analysis for the genetic analysis in subgroups of pregnancy loss.
J Matern Fetal Neonatal Med
; 35(22): 4404-4411, 2022 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-33228446
7.
Quantification of Differential Metabolites in Dried Blood Spots Using Second-Tier Testing for SCADD/IBDD Disorders Based on Large-Scale Newborn Screening in a Chinese Population.
Front Pediatr
; 9: 757424, 2021.
Artículo
en Inglés
| MEDLINE | ID: mdl-34869113
8.
Identification and analyzes of DUOX2 mutations in two familial congenital hypothyroidism cases.
Endocrine
; 72(1): 147-156, 2021 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-32803677
9.
Clinical value for the detection of fetal chromosomal deletions/duplications by noninvasive prenatal testing in clinical practice.
Mol Genet Genomic Med
; 9(6): e1687, 2021 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-33951332
10.
Reference Standards for Newborn Screening of Metabolic Disorders by Tandem Mass Spectrometry: A Nationwide Study on Millions of Chinese Neonatal Populations.
Front Mol Biosci
; 8: 719866, 2021.
Artículo
en Inglés
| MEDLINE | ID: mdl-34977148
11.
Clinical management of pregnancies with positive screening results for rare autosomal aneuploidies at a single center.
J Int Med Res
; 48(11): 300060520966877, 2020 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-33167762
12.
Chinese expert brief consensus on newborn screening of inherited metabolic disorders during the novel coronavirus infection epidemic.
Ann Transl Med
; 8(7): 429, 2020 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-32395473
13.
Biochemical, Molecular, and Clinical Characterization of Patients With Primary Carnitine Deficiency via Large-Scale Newborn Screening in Xuzhou Area.
Front Pediatr
; 7: 50, 2019.
Artículo
en Inglés
| MEDLINE | ID: mdl-30863740
14.
Newborn Screening for Methylmalonic Acidemia in a Chinese Population: Molecular Genetic Confirmation and Genotype Phenotype Correlations.
Front Genet
; 9: 726, 2018.
Artículo
en Inglés
| MEDLINE | ID: mdl-30728829
15.
Application of karyotype analysis combined with BACs-on-Beads for prenatal diagnosis.
Exp Ther Med
; 16(4): 2895-2900, 2018 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-30214511
16.
Non-invasive prenatal testing in detecting sex chromosome aneuploidy: A large-scale study in Xuzhou area of China.
Clin Chim Acta
; 481: 139-141, 2018 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-29544746
17.
Next-generation sequencing of NKX2.1, FOXE1, PAX8, NKX2.5, and TSHR in 100 Chinese patients with congenital hypothyroidism and athyreosis.
Clin Chim Acta
; 470: 36-41, 2017 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-28455095
18.
GJB2 as Well as SLC26A4 Gene Mutations are Prominent Causes for Congenital Deafness.
Cell Biochem Biophys
; 73(1): 41-4, 2015 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-25649612
19.
The Diagnosis Pattern of Mid-Trimester Fetal Chromosomal Aneuploidy in Xuzhou and the Clinical Applications.
Cell Biochem Biophys
; 73(2): 267-270, 2015 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-25733332
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