238 papers found
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From sub-microscopic variants to the resolution of a single base pair: Exome sequencing in prenatal diagnosis
Prenatal detection of 1p36 deletion syndrome: ultrasound findings and microarray testing results
Congenital Nonspherocytic Hemolytic Anemia Caused by Krüppel-Like Factor 1 Gene Variants: Another Case Report
A β-Thalassemia Trait with Two Mutations in Cis in a Chinese Family
Confined placental trisomy detection through cell-free DNA in the maternal circulation: Benefit for pregnancy management
Germline mosaicism in an α‐thalassemia family: Incidental identification by prenatal ultrasound
Prenatal diagnosis of trisomy 22 at the first trimester of pregnancy
First prenatal case of 48,XXYY syndrome detected by maternal cell-free DNA testing
The role of ultrasound in the choice between chorionic villus sampling and amniocentesis for patients with a positive NIPT result for trisomy 18/13
Cystic hygroma and micromelic lower limbs: First-trimester sonographic markers of campomelic dysplasia
Can cell-free DNA testing be used in pregnancies with isolated fetal omphalocele? Preliminary evidence from cytogenetic results of prenatal cases
Apparent germline mosaicism for a 15q11-q13 deletion causing recurrent Angelman syndrome in a Chinese family
Fetal phenotypes of congenital disorder of glycosylation: A case presentation
Early prenatal detection of hypertrophic cardiomyopathy in Noonan syndrome: A case to remember
Osteogenesis imperfecta type VIII: Association with increased nuchal translucency and prenatal diagnosis by targeted exome sequencing
Prenatal Ultrasound Presentations in Late Pregnancies Affected With Alpha Thalassemia Major
Congenital Cystic Diaphragm with Diaphragmatic Eventration in a Fetus: A Case Presentation
A Krüppel-Like Factor 1 Gene Mutation Ameliorates the Severity of β-Thalassemia: A Case Report
Coinheritance of Hb City of Hope (HBB: c.208G>A) and β-Thalassemia: Compromising the Molecular Diagnosis of the Codons 71/72 (+A) (HBB: c.216_217insA) Mutation by Reverse Dot-Blot Hybridization
Detection of confined placental trisomy 16 using non-invasive prenatal testing in a pregnancy associated with intrauterine growth restriction and normal karyotype
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