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- Journal Article
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Evaluation of efficiency and sensitivity of 1D and 2D sample pooling strategies for SARS-CoV-2 RT-qPCR screening purposes
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Exome-based panel testing as an efficient method to diagnose the highly heterogeneous ocular disorder spectrum Microphthalmia, Anophthalmia, Coloboma and Anterior Segment Dysgenesis (MAC-ASD)
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Detection of copy number alterations by shallow whole-genome sequencing of formalin-fixed, paraffin-embedded tumor tissue
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Clinical experience with shallow whole genome sequencing as a detection method for Copy Number Variations
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Analysis of whole exome sequencing data with a panel of genes associated with intellectual disability and epilepsy in a diagnostic lab
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Non-invasive prenatal testing (NIPT) : how to handle secondary findings of maternal chromosomal abnormalities
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Detection of copy number alterations using shallow whole genome sequencing on formalin-fixed paraffin-embedded tumor tissue
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Detection of copy number alterations using shallow whole genome sequencing on formalin-fixed paraffin-embedded tumor tissue
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- Journal Article
- A1
- open access
Leigh syndrome followed by parkinsonism in an adult with homozygous c.626C > T mutation in MTFMT
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- Journal Article
- A2
- open access
The mutational landscape of MYCN, Lin28b and ALKF1174L driven murine neuroblastoma mimics human disease