Found: 105
Select item for more details and to access through your institution.
Prenatal diagnosis and genetic analysis of small supernumerary marker chromosomes in the eastern chinese han population: A retrospective study of 36 cases.
- Published in:
- Chromosome Research, 2024, v. 32, n. 3, p. 1, doi. 10.1007/s10577-024-09754-y
- By:
- Publication type:
- Article
Peripheral blood circular RNA circ-0008102 may serve as a novel clinical biomarker in beta-thalassemia patients.
- Published in:
- European Journal of Pediatrics, 2024, v. 183, n. 3, p. 1367, doi. 10.1007/s00431-023-05398-y
- By:
- Publication type:
- Article
Classifying and evaluating fetuses with multicystic dysplastic kidney in etiologic studies.
- Published in:
- Experimental Biology & Medicine, 2023, v. 248, n. 10, p. 858, doi. 10.1177/15353702231164933
- By:
- Publication type:
- Article
Chromosomal Microarray Analysis for the Fetuses with Aortic Arch Abnormalities and Normal Karyotype.
- Published in:
- Molecular Diagnosis & Therapy, 2020, v. 24, n. 5, p. 611, doi. 10.1007/s40291-020-00474-7
- By:
- Publication type:
- Article
Molecular characterization of thalassemia and hemoglobinopathy in Southeastern China.
- Published in:
- Scientific Reports, 2019, v. 9, n. 1, p. 1, doi. 10.1038/s41598-019-40089-5
- By:
- Publication type:
- Article
Analysis of the EGFR Amplification and CDKN2A Deletion Regulated Transcriptomic Signatures Reveals the Prognostic Significance of SPATS2L in Patients With Glioma.
- Published in:
- Frontiers in Oncology, 2021, v. 11, p. N.PAG, doi. 10.3389/fonc.2021.551160
- By:
- Publication type:
- Article
Biochemical and molecular features of tetrahydrobiopterin deficiency in Fujian Province, southeastern China.
- Published in:
- Frontiers in Genetics, 2023, p. 1, doi. 10.3389/fgene.2023.1250568
- By:
- Publication type:
- Article
Intrauterine ultrasound phenotyping, molecular characteristics, and postnatal follow-up of fetuses with the 15q11.2 BP1-BP2 microdeletion syndrome: a single-center, retrospective clinical study.
- Published in:
- BMC Pregnancy & Childbirth, 2024, v. 24, n. 1, p. 1, doi. 10.1186/s12884-023-06223-y
- By:
- Publication type:
- Article
Intrauterine ultrasound phenotyping, molecular characteristics, and postnatal follow-up of fetuses with the 15q11.2 BP1-BP2 microdeletion syndrome: a single-center, retrospective clinical study.
- Published in:
- BMC Pregnancy & Childbirth, 2024, v. 24, n. 1, p. 1, doi. 10.1186/s12884-023-06223-y
- By:
- Publication type:
- Article
Fetal genetic findings by chromosomal microarray analysis and karyotyping for fetal growth restriction without structural malformations at a territory referral center: 10-year experience.
- Published in:
- BMC Pregnancy & Childbirth, 2023, v. 23, n. 1, p. 1, doi. 10.1186/s12884-023-05394-y
- By:
- Publication type:
- Article
Non-invasive prenatal testing of fetal whole chromosome aneuploidy by massively parallel sequencing.
- Published in:
- Prenatal Diagnosis, 2013, v. 33, n. 5, p. 409, doi. 10.1002/pd.4033
- By:
- Publication type:
- Article
TP53 and TP53-associated genes are correlated with the prognosis of paediatric neuroblastoma.
- Published in:
- BMC Genomic Data, 2022, v. 23, n. 1, p. 1, doi. 10.1186/s12863-022-01059-5
- By:
- Publication type:
- Article
Prenatal genetic diagnosis of fetuses with dextrocardia using whole exome sequencing in a tertiary center.
- Published in:
- Scientific Reports, 2024, v. 14, n. 1, p. 1, doi. 10.1038/s41598-024-67164-w
- By:
- Publication type:
- Article
TP53 inhibitor PFTα increases the sensitivity of arsenic trioxide in TP53 wildtype tumor cells.
- Published in:
- FEBS Open Bio, 2022, v. 12, n. 3, p. 616, doi. 10.1002/2211-5463.13366
- By:
- Publication type:
- Article
The interactions between ineffective erythropoiesis and ferroptosis in β-thalassemia.
- Published in:
- Frontiers in Physiology, 2024, p. 1, doi. 10.3389/fphys.2024.1346173
- By:
- Publication type:
- Article
Molecular Epidemiology of Group B Streptococcus Isolates from Pregnant Women with Premature Rupture of Membranes in Fuzhou, China.
- Published in:
- Infection & Drug Resistance, 2023, v. 16, p. 269, doi. 10.2147/IDR.S393935
- By:
- Publication type:
- Article
Serum peptidyl-prolyl cis-trans isomerase NIMA-interacting 1 in combination with C-reactive protein and white blood cell as novel predictors for infants with community-acquired pneumonia.
- Published in:
- European Journal of Inflammation, 2020, v. 18, p. 1, doi. 10.1177/2058739220942343
- By:
- Publication type:
- Article
Serum peptidyl-prolyl cis-trans isomerase NIMA-interacting 1 in combination with C-reactive protein and white blood cell as novel predictors for infants with community-acquired pneumonia.
- Published in:
- European Journal of Inflammation, 2020, p. 1, doi. 10.1177/2058739220942343
- By:
- Publication type:
- Article
Comparison and Agreement Analysis of ARCHITECT i2000SR and i-CHROMA™ Reader for Detecting Human Chorionic Gonadotropin Beta Subunit in Plasma.
- Published in:
- Clinical Laboratory, 2019, v. 65, n. 9, p. 1589, doi. 10.7754/Clin.Lab.2019.181237
- By:
- Publication type:
- Article
Antimicrobial Resistance, Genetic Diversity and Virulence Genes of Salmonella Typhimurium Isolated in Infant with Acute Diarrhea in Fuzhou, China, 2015 - 2017.
- Published in:
- Clinical Laboratory, 2019, v. 65, n. 5, p. 779, doi. 10.7754/Clin.Lab.2018.181010
- By:
- Publication type:
- Article
Identification of transcription factors MYC and C/EBPβ mediated regulatory networks in heart failure based on gene expression omnibus datasets.
- Published in:
- 2020
- By:
- Publication type:
- journal article
Application of the BACs‐on‐Beads™ assay for rapid prenatal detection application of BoBs™ for PND of aneuploidies and microdeletions.
- Published in:
- Molecular Reproduction & Development, 2018, v. 85, n. 2, p. 146, doi. 10.1002/mrd.22945
- By:
- Publication type:
- Article
Classifying and Evaluating Fetuses With Ventriculomegaly in Genetic Etiologic Studies.
- Published in:
- Frontiers in Genetics, 2021, v. 11, p. 1, doi. 10.3389/fgene.2021.682707
- By:
- Publication type:
- Article
The Clinical Values of Afamin, Triglyceride and PLR in Predicting Risk of Gestational Diabetes During Early Pregnancy.
- Published in:
- Frontiers in Endocrinology, 2021, v. 12, p. 1, doi. 10.3389/fendo.2021.723650
- By:
- Publication type:
- Article
Regulation of N<sup>6</sup>‐methyladenosine modification in erythropoiesis and thalassemia.
- Published in:
- Clinical Genetics, 2024, v. 106, n. 1, p. 3, doi. 10.1111/cge.14518
- By:
- Publication type:
- Article
A novel PLS1 c.981+1G>A variant causes autosomal‐dominant hereditary hearing loss in a family.
- Published in:
- Clinical Genetics, 2023, v. 103, n. 4, p. 413, doi. 10.1111/cge.14283
- By:
- Publication type:
- Article
The clinical value of hsa-miR-190b-5p in peripheral blood of pediatric β-thalassemia and its regulation on BCL11A expression.
- Published in:
- PLoS ONE, 2023, v. 18, n. 10, p. 1, doi. 10.1371/journal.pone.0292031
- By:
- Publication type:
- Article
Prenatal diagnosis and genetic etiology analysis of talipes equinovarus by chromosomal microarray analysis.
- Published in:
- BMC Medical Genomics, 2023, v. 16, n. 1, p. 1, doi. 10.1186/s12920-023-01733-2
- By:
- Publication type:
- Article
Genetic and ultrasonographic analyses of fetuses with 1q21.1q21.2 microdeletion/microduplication: a retrospective study.
- Published in:
- 2023
- By:
- Publication type:
- Case Study
Prenatal diagnosis of genetic aberrations in fetuses with pulmonary stenosis in southern China: a retrospective analysis.
- Published in:
- BMC Medical Genomics, 2023, v. 16, n. 1, p. 1, doi. 10.1186/s12920-023-01548-1
- By:
- Publication type:
- Article
Genetic disorders and pregnancy outcomes of non-immune hydrops fetalis in a tertiary referral center.
- Published in:
- BMC Medical Genomics, 2023, v. 16, n. 1, p. 1, doi. 10.1186/s12920-023-01505-y
- By:
- Publication type:
- Article
Clinical findings and genetic analysis of patients with copy number variants involving 17p13.3 using a single nucleotide polymorphism array: a single-center experience.
- Published in:
- BMC Medical Genomics, 2022, v. 15, n. 1, p. 1, doi. 10.1186/s12920-022-01423-5
- By:
- Publication type:
- Article
Application of the Single-Molecule Real-Time Technology (SMRT) for Identification of HKαα Thalassemia Allele.
- Published in:
- Laboratory Medicine, 2023, v. 54, n. 1, p. 65, doi. 10.1093/labmed/lmac065
- By:
- Publication type:
- Article
Prognostic significance of MYCN related genes in pediatric neuroblastoma: a study based on TARGET and GEO datasets.
- Published in:
- 2020
- By:
- Publication type:
- journal article
Screening and the analysis of genotypic and phenotypic characterization of glucose-6-phosphate dehydrogenase (G6PD) deficiency in Fujian province, China.
- Published in:
- Frontiers in Genetics, 2024, p. 1, doi. 10.3389/fgene.2024.1422214
- By:
- Publication type:
- Article
Screening primary carnitine deficiency in 10 million Chinese newborns: a systematic review and meta-analysis.
- Published in:
- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03267-x
- By:
- Publication type:
- Article
Biochemical and molecular features of chinese patients with glutaric acidemia type 1 from Fujian Province, southeastern China.
- Published in:
- Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02833-z
- By:
- Publication type:
- Article
Genetic analysis, ultrasound phenotype, and pregnancy outcomes of fetuses with Xp22.33 or Yp11.32 microdeletions.
- Published in:
- Journal of Perinatal Medicine, 2024, v. 52, n. 1, p. 96, doi. 10.1515/jpm-2023-0190
- By:
- Publication type:
- Article
Prenatal diagnosis of non-mosaic sex chromosome abnormalities: a 10-year experience from a tertiary referral center.
- Published in:
- Journal of Perinatal Medicine, 2023, v. 51, n. 7, p. 904, doi. 10.1515/jpm-2022-0552
- By:
- Publication type:
- Article
Fetal agenesis of corpus callosum: chromosomal copy number abnormalities and postnatal follow-up.
- Published in:
- 2024
- By:
- Publication type:
- Case Study
Retrospective analysis of the sex chromosomal copy number variations in 186 fetuses using single nucleotide polymorphism arrays.
- Published in:
- Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.997757
- By:
- Publication type:
- Article
Genetic Diagnostic Yield and Novel Causal Genes of Congenital Heart Disease.
- Published in:
- Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.941364
- By:
- Publication type:
- Article
Prenatal Diagnosis of 17p11.2 Copy Number Abnormalities Associated With Smith–Magenis and Potocki–Lupski Syndromes in Fetuses.
- Published in:
- 2021
- By:
- Publication type:
- Case Study
Different Cutoff Values for Increased Nuchal Translucency in First-Trimester Screening to Predict Fetal Chromosomal Abnormalities.
- Published in:
- International Journal of General Medicine, 2021, v. 14, p. 8437, doi. 10.2147/IJGM.S330960
- By:
- Publication type:
- Article
Comprehensive Assessment of Fetal Bilateral Ventriculomegaly Based on Genetic Disorders, Cytomegalovirus Infection, Extra Prenatal Imaging and Pregnancy Outcomes in a Tertiary Referral Center.
- Published in:
- International Journal of General Medicine, 2021, v. 14, p. 7719, doi. 10.2147/IJGM.S335011
- By:
- Publication type:
- Article
Screening of Some Indicators for Alpha-Thalassemia in Fujian Province of Southern China.
- Published in:
- International Journal of General Medicine, 2021, v. 14, p. 7329, doi. 10.2147/IJGM.S338419
- By:
- Publication type:
- Article
Application of Single Nucleotide Polymorphism Microarray in Prenatal Diagnosis of Fetuses with Central Nervous System Abnormalities.
- Published in:
- International Journal of General Medicine, 2021, v. 14, p. 4239, doi. 10.2147/IJGM.S323899
- By:
- Publication type:
- Article
Effectiveness of Chromosomal Microarray Analysis for Prenatal Diagnosis of Fetal Echogenic Intracardiac Focus: A Single-Center Experience.
- Published in:
- International Journal of General Medicine, 2021, v. 14, p. 1991, doi. 10.2147/IJGM.S311800
- By:
- Publication type:
- Article
Comprehensive analysis of early pregnancy loss based on cytogenetic findings from a tertiary referral center.
- Published in:
- Molecular Cytogenetics (17558166), 2021, v. 14, n. 1, p. 1, doi. 10.1186/s13039-021-00577-8
- By:
- Publication type:
- Article
Evaluation of chromosomal abnormalities and copy number variations in fetuses with ultrasonic soft markers.
- Published in:
- BMC Medical Genomics, 2021, v. 14, n. 1, p. 1, doi. 10.1186/s12920-021-00870-w
- By:
- Publication type:
- Article