Reproductive genetic counseling challenges associated with diagnostic exome sequencing in a large academic private reproductive genetic counseling practice.

Reproductive genetic counseling challenges associated with diagnostic exome sequencing in a large academic private reproductive genetic counseling practice.

Item
http://www.wikidata.org/entity/Q38567069
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.First applications of a targeted exome sequencing approach in fetuses with ultrasound abnormalities reveals an important fraction of cases with associated gene defectsPrenatal DNA Sequencing: Clinical, Counseling, and Diagnostic Laboratory Considerations.Whole-exome sequencing on deceased fetuses with ultrasound anomalies: expanding our knowledge of genetic disease during fetal development.Variants of uncertain significance in newborn screening disorders: implications for large-scale genomic sequencing.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 findingsLMOD3-Associated Nemaline Myopathy: Prenatal Ultrasonographic, Pathologic, and Molecular Findings.Diagnosis of lethal or prenatal-onset autosomal recessive disorders by parental exome sequencing.Genomic study of severe fetal anomalies and discovery of GREB1L mutations in renal agenesis.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 disorderNext generation sequencing and the next generation: how genomics is revolutionizing reproduction
P2860

Reproductive genetic counseling challenges associated with diagnostic exome sequencing in a large academic private reproductive genetic counseling practice.

Item
http://www.wikidata.org/entity/Q38567069
description
2015 nî lūn-bûn
@nan
2015年の論文
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2015年論文
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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
Reproductive genetic counselin ...... e genetic counseling practice.
@en
type
label
Reproductive genetic counselin ...... e genetic counseling practice.
@en
prefLabel
Reproductive genetic counselin ...... e genetic counseling practice.
@en
P1433
P1476
P2093
P2860
P304
P31
P356
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P478
P577
P698
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Reproductive genetic counselin ...... e genetic counseling practice.
@en
P2093
P2860
P304
P31
P356
P433
P478
P577
P698