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Academic Journal

Prenatal diagnosis by trio exome sequencing in fetuses with ultrasound anomalies: A powerful diagnostic tool

Subjects: chromosomal microarray; diagnostic yield; exome sequencing (ES)

  • Source: ISSN: 1664-8021 ; Frontiers in Genetics ; https://normandie-univ.hal.science/hal-04081633 ; Frontiers in Genetics, 2023, 14, pp.1099995. ⟨10.3389/fgene.2023.1099995⟩.

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Academic Journal

Stepwise use of genomics and transcriptomics technologies increases diagnostic yield in Mendelian disorders

Subjects: RNA-seq; clinical diagnoses; genome sequencing

  • Source: ISSN: 2296-634X ; Frontiers in Cell and Developmental Biology ; https://univ-rennes.hal.science/hal-04067649 ; Frontiers in Cell and Developmental Biology, 2023, 11, pp.1021920.

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Academic Journal

Cost-effectiveness of diagnostic tests for threatened preterm labor in singleton pregnancy in France

Subjects: Economic evaluation; Diagnostic test; Cost-effectiveness

  • Source: ISSN: 1478-7547 ; Cost Effectiveness and Resource Allocation ; https://u-bourgogne.hal.science/hal-01859763 ; Cost Effectiveness and Resource Allocation, 2018, 16, pp.21.

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