238 papers found
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δ-Thalassemia with Complete Absence of Hb A2 in a Chinese Family
What would be missed in the first trimester if nuchal translucency measurement is replaced by cell free DNA foetal aneuploidy screening?
Treatment of fetal congenital chylothorax: Report of eight cases at a mainland Chinese medical center
Two α1-Globin Gene Point Mutations Causing Severe Hb H Disease
Hb A2-Tianhe (HBD: c.323G>A): First Report in a Chinese Family with Normal Hb A2-β-Thalassemia Trait
Pre Gestational Thalassemia Screening in Mainland China: The First Two Years of a Preventive Program
First Report of the Rare IVS-II-705 (T>G) β-Thalassemia Mutation in a Chinese Family
Hb Hornchurch [β43(CD2)Glu→Lys; HBB: c.130G>A] Compromises the Molecular Diagnosis of β-Thalassemia in a Chinese Family
α-Haemoglobin pool measurement: a useful biomarker for evaluation of β-thalassaemia intermedia?
Clinical outcome of pregnancies with the prenatal double bubble sign – a five-year experience from one single centre in mainland China
Novel FREM1 mutations are associated with severe hydrocephalus and shortened limbs in a prenatal case
Identification of the 2-tridecanone cis -acting element in the promoter of cytochrome P450 CYP6B7 in Helicoverpa armigera : 2-tridecanone cis-acting element of CYP6B7
Prenatal diagnosis of Ectrodactyly–Ectodermal dysplasia–Cleft (EEC) syndrome in a Chinese woman with a TP63 mutation
Generation of Induced Pluripotent Stem Cells from Amniotic Fluid Cells of a Fetus with Hb Bart’s Disease
Whole-exome sequencing for prenatal diagnosis of fetuses with congenital anomalies of the kidney and urinary tract
Whole-exome sequencing identifies compound heterozygous LHX4 mutations in a fetus with early-onset growth restriction
A prenatal case of osteogenesis imperfecta diagnosed with next-generation sequencing
A de novo ankyrin mutation (ANK1 Q109X) causing severe hereditary spherocytosis from preterm neonatal period
Invasive prenatal diagnosis of fetal thalassemia
A Novel Frameshift Mutation at Codons 138/139 (HBB: c.417_418insT) on the β-Globin Gene Leads to β-Thalassemia
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