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Prenatal Diagnosis: Congenital Anomalies

Prenatal Diagnosis: Congenital Anomalies diagram by Kateryna Kon, Shutterstock
Kateryna Kon, Shutterstock

Prenatal diagnosis has enabled the detection of chromosomal abnormalities as well as single gene disorders and led to substantive improvements in the detection of congenital anomalies. Here is the latest research.

Top 20 most recent papers
Genes

DNA Methylation in the Diagnosis of Monogenic Diseases

GenesApril 1, 2020
Flavia CerratoAndrea Riccio
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics

Clinical phenotype and variantal analysis of a pedigree affected with hereditary coagulation factor V deficiency

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsMarch 29, 2020
Fengyu CheJiangang Zhao
Journal of Managed Care & Specialty Pharmacy

The Effectiveness and Value of Deflazacort and Exon-Skipping Therapies for the Management of Duchenne Muscular Dystrophy

Journal of Managed Care & Specialty PharmacyApril 1, 2020
Foluso AgboolaSteven D Pearson
The Journal of Pediatrics

Syphilis screening in pregnant women: Discordant results require careful confirmation

The Journal of PediatricsMarch 25, 2020
Rebecca Pellett Madan
Pediatric Nephrology : Journal of the International Pediatric Nephrology Association

Born with a solitary kidney: at risk of hypertension

Pediatric Nephrology : Journal of the International Pediatric Nephrology AssociationMarch 27, 2020
Claudio La ScolaGiovanni Montini
12
Archivos argentinos de pediatría

Congenital heart disease, prenatal diagnosis and management

Archivos argentinos de pediatríaMarch 22, 2020
César H MellerLucas Otaño
European Journal of Radiology

What does the normal fetal face look like? MR imaging of the developing mandible and nasal cavity

European Journal of RadiologyMarch 23, 2020
Arik TorenEldad Katorza
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics

Identification of a novel CHS1/LYST variant in a Chinese pedigree affected with Chediak-Higashi syndrome

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsMarch 29, 2020
Jianhua MengXiaowen Zhai
Cardiology in the Young

Complete closure of the ductus arteriosus in the foetus with transposition of the great arteries

Cardiology in the YoungMarch 25, 2020
Agnieszka GrzybJoanna Szymkiewicz-Dangel
International Journal of Systematic and Evolutionary Microbiology

Bacillus salinus sp. nov., isolated from commercial solar salt

International Journal of Systematic and Evolutionary MicrobiologyMarch 28, 2020
Heeyoung KangKiseong Joh
1
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics

Genetic variant analysis of a pedigree affected with lymphedema-distichiasis syndrome

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsMarch 29, 2020
Yuefang LiuQiong Pan
1
Journal of Ethnopharmacology

Safety and clinical effectiveness of Withania Somnifera (Linn.) Dunal root in human ailments

Journal of EthnopharmacologyMarch 24, 2020
Neeraj Tandon, Satyapal Singh Yadav
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics

Result of carrier screening for spinal muscular atrophy among 3049 reproductive-age individuals from Yunnan region

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsMarch 29, 2020
Yinhong ZhangBaosheng Zhu

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