238 papers found
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Prenatal diagnosis of foetuses with congenital abnormalities and duplication of the MECP2 region
Implementation of Newborn Screening for Hemoglobin H Disease in Mainland China
Prevalence and Molecular Characterization of Structural Hemoglobin Variants in the Dongguan Region of Guangdong Province, Southern China
Should sex chromosomes be excluded from use in QF-PCR in prenatal samples with a molecular referral?
Prenatal control of Hb Bart’s hydrops fetalis: a two-year experience at a mainland Chinese hospital
Screening and Diagnosis of Hb Quong Sze [HBA2: c.377T > C (orHBA1)] in a Prenatal Control Program for Thalassemia
Noninvasive prenatal diagnosis of common aneuploidies by semiconductor sequencing
A New Hemoglobin Variant: Hb Henan [β90(F6)Glu → Gln;HBB: c.271G
Detection of Hb Anti-Lepore Hong Kong (NG_000007.3: g.63154_70565dup) in Chinese Individuals
Case Report: Prenatal Diagnosis of Hb Hammersmith [β42(CD1)Phe→Ser;HBB: c.128T > C] in a Family with an Adult Male Patient
Newborn Screening for Hb H Disease by Determination of Hb Bart’s Using the Sebia Capillary Electrophoresis System in Southern China
Loss-of-function variation in the DPP6 gene is associated with autosomal dominant microcephaly and mental retardation
Birth of children with severe β-thalassemia at a tertiary obstetric hospital: what are the reasons behind it?: Birth of children with severe β-thalassemia
The prevalence of non-detectable chromosomal abnormalities by QF-PCR in amniocentesis for certain referral indications: experience at a mainland Chinese hospital
CODON 30 (–GAG) (α2): Hematological Parameters in Heterozygotes and also Patients with Hb H Disease
KLF1Gene Mutations in Chinese Adults with Increased Fetal Hemoglobin
Prenatal control of nondeletional α -thalassemia: first experience in mainland China : Prenatal control of nondeletional α -thalassemia
Discordant results between fetal karyotyping and non-invasive prenatal testing by maternal plasma sequencing in a case of uniparental disomy 21 due to trisomic rescue
Detection of Hb Constant Spring [α142, Term→Gln,TAA>CAA (α2)] in Heterozygotes Combined With β-Thalassemia
A protocol for screening of aneuploidy in pregnancies at risk for α-thalassemia
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