238 papers found
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Chromosomal microarray analysis in pregnancies at risk for a molecular disorder
Prenatal diagnosis of 17q12 deletion syndrome: a retrospective case series
Unstable Hemoglobin Variants: The Need for Clinical Vigilance in Infants with Congenital Jaundice
Regulatory Single Nucleotide Polymorphism rs368698783 (G>A): a Genetic Modifier of Hb F Production Only under Erythropoietic Stress Characteristic for β-Globin Chain Deficiency?
Pitfall in genetic screening in a pregnancy involving an allogeneic hematopoietic stem cell transplantation recipient
The indications for early prenatal diagnosis of trisomy 18: a 7-year experience at mainland China
Fetal-onset congenital dyserythropoietic anemia type 1 due to CDAN1 mutations presenting as hydrops fetalis
Early prenatal detection of short‐rib polydactyly syndrome in a monochorionic diamniotic twin pregnancy
Results of Coexistence of β-Thalassemia Minor in Hb H Disease Patients
First Report of a Case with Nondeletional Hb H Disease Caused by IVS-I-116 (A>G) of the α2-Globin Gene
Early prenatal detection of Bardet-Biedl syndrome in a case with postaxial polydactyly and hyperechoic kidneys confirmed by next generation sequencing
A cost-effectiveness analysis comparing two different strategies in advanced maternal age: Combined first-trimester screening and maternal blood cell-free DNA testing
Early prenatal diagnosis of 49,XXXXY: two case reports
Prenatal diagnosis of Wolf-Hirschhorn syndrome: Ultrasonography and molecular karyotyping results
KFL1 Gene Variants in α-Thalassemia Individuals with Increased Fetal Hemoglobin in a Chinese Population
Analysis of the Genotypes in a Chinese Population with Increased Hb A2and Low Hematological Indices
Prenatal diagnosis of Wolf-Hirschhorn syndrome at the first trimester using chromosomal microarray analysis
Application of noninvasive prenatal testing in pregnancies with fetal double bubble sign: Is it feasible?
Chromosomal microarray analysis detects trisomy 9 mosaicism in a prenatal case not revealed by conventional cytogenetic analysis of cord blood
Germline mosaicism in a DMD family: incidental identification in prenatal diagnosis
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