Non-invasive prenatal diagnosis of achondroplasia and thanatophoric dysplasia: next-generation sequencing allows for a safer, more accurate, and comprehensive approach.
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Recent advances in prenatal genetic screening and testingThe accuracy of cell-free fetal DNA-based non-invasive prenatal testing in singleton pregnancies: a systematic review and bivariate meta-analysis.Promises, pitfalls and practicalities of prenatal whole exome sequencing.Fetal Genotyping in Maternal Blood by Digital PCR: Towards NIPD of Monogenic Disorders Independently of Parental OriginTargeted capture enrichment assay for non-invasive prenatal testing of large and small size sub-chromosomal deletions and duplicationsCell-free fetal DNA testing for fetal aneuploidy and beyond: clinical integration challenges in the US contextNon-invasive prenatal diagnosis of Duchenne and Becker muscular dystrophies by relative haplotype dosage.Evidence for feasibility of fetal trophoblastic cell-based noninvasive prenatal testing.Second generation noninvasive fetal genome analysis reveals de novo mutations, single-base parental inheritance, and preferred DNA ends.Noninvasive prenatal testing to analyze the fetal genomeNon-invasive prenatal diagnosis of spinal muscular atrophy by relative haplotype dosage.Noninvasive Prenatal Screening for Genetic Diseases Using Massively Parallel Sequencing of Maternal Plasma DNAEvaluating skeletal dysplasias on prenatal ultrasound: an emphasis on predicting lethality.Clinical, social and ethical issues associated with non-invasive prenatal testing for aneuploidy.Droplet digital PCR combined with minisequencing, a new approach to analyze fetal DNA from maternal blood: application to the non-invasive prenatal diagnosis of achondroplasia.Gonadal mosaicism and non-invasive prenatal diagnosis for 'reassurance' in sporadic paternal age effect (PAE) disordersNon-invasive prenatal diagnosis (NIPD) for single gene disorders: cost analysis of NIPD and invasive testing pathways.cfDNA screening and diagnosis of monogenic disorders - where are we heading?Amniocentesis is still the best option for advanced genomic testing in case of fetal malformations.Whole Exome Sequencing: Applications in Prenatal Genetics.Implementing Non-Invasive Prenatal Diagnosis (NIPD) in a National Health Service Laboratory; From Dominant to Recessive Disorders.Women's perspectives on the ethical implications of non-invasive prenatal testing: a qualitative analysis to inform health policy decisions.Fetal Mesenchymal Stromal Cells: an Opportunity for Prenatal Cellular Therapy.In case you missed it: thePrenatal Diagnosiseditors bring you the most significant advances of 2015Exome sequencing for prenatal diagnosis of fetuses with sonographic abnormalities
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P2860
Non-invasive prenatal diagnosis of achondroplasia and thanatophoric dysplasia: next-generation sequencing allows for a safer, more accurate, and comprehensive approach.
description
2015 nî lūn-bûn
@nan
2015年の論文
@ja
2015年学术文章
@wuu
2015年学术文章
@zh-cn
2015年学术文章
@zh-hans
2015年学术文章
@zh-my
2015年学术文章
@zh-sg
2015年學術文章
@yue
2015年學術文章
@zh
2015年學術文章
@zh-hant
name
Non-invasive prenatal diagnosi ...... e, and comprehensive approach.
@ast
Non-invasive prenatal diagnosi ...... e, and comprehensive approach.
@en
type
label
Non-invasive prenatal diagnosi ...... e, and comprehensive approach.
@ast
Non-invasive prenatal diagnosi ...... e, and comprehensive approach.
@en
prefLabel
Non-invasive prenatal diagnosi ...... e, and comprehensive approach.
@ast
Non-invasive prenatal diagnosi ...... e, and comprehensive approach.
@en
P2093
P2860
P50
P356
P1433
P1476
Non-invasive prenatal diagnosi ...... te, and comprehensive approach
@en
P2093
Lucy A Jenkins
Rebecca Daley
Sarah Mason
P2860
P304
P356
10.1002/PD.4583
P577
2015-05-26T00:00:00Z