First applications of a targeted exome sequencing approach in fetuses with ultrasound abnormalities reveals an important fraction of cases with associated gene defects

First applications of a targeted exome sequencing approach in fetuses with ultrasound abnormalities reveals an important fraction of cases with associated gene defects

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http://www.wikidata.org/entity/Q36881073
Promises, pitfalls and practicalities of prenatal whole exome sequencing.Targeted sequencing identifies a novel SH2D1A pathogenic variant in a Chinese family: Carrier screening and prenatal genetic testing.Prenatal diagnosis of X-linked myopathy associated with a VMA21 gene mutation afforded through a novel targeted exome sequencing strategy applied in fetuses with abnormal ultrasound findingsStructural Chromosomal Rearrangements Require Nucleotide-Level Resolution: Lessons from Next-Generation Sequencing in Prenatal DiagnosisPrenatal exome sequencing in anomalous fetuses: new opportunities and challenges.Parental experiences of prenatal whole exome sequencing (WES) in cases of ultrasound diagnosed fetal structural anomaly.LMOD3-Associated Nemaline Myopathy: Prenatal Ultrasonographic, Pathologic, and Molecular Findings.In case you missed it: the Prenatal Diagnosis editors bring you the most significant advances of 2016.Advanced genomic testing may aid in counseling of isolated agenesis of the corpus callosum on prenatal ultrasound.Whole Exome Sequencing: Applications in Prenatal Genetics.Intra-familial variability associated with recessive RYR1 mutation diagnosed prenatally by exome sequencing.
P2860

First applications of a targeted exome sequencing approach in fetuses with ultrasound abnormalities reveals an important fraction of cases with associated gene defects

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http://www.wikidata.org/entity/Q36881073
description
2016 nî lūn-bûn
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2016年の論文
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2016年論文
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2016年論文
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2016年論文
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2016年論文
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2016年論文
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2016年论文
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2016年论文
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2016年论文
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name
First applications of a target ...... s with associated gene defects
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First applications of a target ...... s with associated gene defects
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First applications of a target ...... s with associated gene defects
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First applications of a target ...... s with associated gene defects
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P2093
P2860
P304
P31
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P478
P577
P698
P932