Exome sequencing positively identified relevant alterations in more than half of cases with an indication of prenatal ultrasound anomalies.

Exome sequencing positively identified relevant alterations in more than half of cases with an indication of prenatal ultrasound anomalies.

Item
http://www.wikidata.org/entity/Q40294105
Recent advances in prenatal genetic screening and testingClinical diagnostic exome evaluation for an infant with a lethal disorder: genetic diagnosis of TARP syndrome and expansion of the phenotype in a patient with a newly reported RBM10 alteration.Promises, pitfalls and practicalities of prenatal whole exome sequencing.First applications of a targeted exome sequencing approach in fetuses with ultrasound abnormalities reveals an important fraction of cases with associated gene defectsA Clinician's perspective on clinical exome sequencing.Whole-exome sequencing on deceased fetuses with ultrasound anomalies: expanding our knowledge of genetic disease during fetal development.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 findingsPrenatal exome sequencing in anomalous fetuses: new opportunities and challenges.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.A Dysmorphology Based Systematic Approach Toward Perinatal Genetic Diagnosis in a Fetal Autopsy Series.Prenatal diagnosis of fetal akinesia deformation sequence (FADS): a study of 79 consecutive cases.Whole Exome Sequencing: Applications in Prenatal Genetics.Current controversies in prenatal diagnosis 2: should a fetal exome be used in the assessment of a dysmorphic or malformed fetus?Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder
P2860

Exome sequencing positively identified relevant alterations in more than half of cases with an indication of prenatal ultrasound anomalies.

Item
http://www.wikidata.org/entity/Q40294105
description
2015 nî lūn-bûn
@nan
2015年の論文
@ja
2015年論文
@yue
2015年論文
@zh-hant
2015年論文
@zh-hk
2015年論文
@zh-mo
2015年論文
@zh-tw
2015年论文
@wuu
2015年论文
@zh
2015年论文
@zh-cn
name
Exome sequencing positively id ...... prenatal ultrasound anomalies.
@en
type
label
Exome sequencing positively id ...... prenatal ultrasound anomalies.
@en
prefLabel
Exome sequencing positively id ...... prenatal ultrasound anomalies.
@en
P1433
P1476
P2093
P2860
P304
P31
P356
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P478
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P5875
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P1433
P1476
Exome sequencing positively id ...... prenatal ultrasound anomalies.
@en
P2093
P2860
P304
P31
P356
P433
P478
P577
P5875
P698