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Non-invasive prenatal sequencing for multiple Mendelian monogenic disorders using circulating cell-free fetal DNA.
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Non-invasive prenatal sequencing for multiple Mendelian monogenic disorders using circulating cell-free fetal DNA.
Non-invasive prenatal sequencing for multiple Mendelian monogenic disorders using circulating cell-free fetal DNA. Nat Med. 2019 03; 25(3):439-447.
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PubMed
subject areas
Abnormalities, Multiple
Achondroplasia
Acrocephalosyndactylia
Adult
Bone and Bones
Cell-Free Nucleic Acids
Collagen Type I
De Lange Syndrome
Female
Genetic Diseases, Inborn
High-Throughput Nucleotide Sequencing
Humans
Hydrops Fetalis
Lymphangioma, Cystic
Nuchal Translucency Measurement
Osteogenesis Imperfecta
Predictive Value of Tests
Pregnancy
Prenatal Diagnosis
Sequence Analysis, DNA
Thanatophoric Dysplasia
Ultrasonography, Prenatal
authors with profiles
CHAD SHAW
CHRISTINE ENG
IGNATIA VAN DEN VEYVER
FAN XIA
HONGZHENG DAI