18 results on '"Liu, Ruby"'
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2. P426: Recognizing the promise and potential pitfalls of genomic medicine through routine rapid whole genome sequencing
3. P519: Evidence of complex inheritance patterns in limb-girdle and other muscular dystrophies: Synergistic heterozygosity and multigenic inheritance
4. P389: Real-world evidence demonstrating why genome sequencing should be recommended as the first-tier genetic test*
5. P476: Identification and accurate sizing of D4Z4 repeat units in patients suspected of facioscapulohumeral muscular dystrophy (FSHD) using optical genome mapping*
6. P639: Prenatal diagnosis of Alkuraya-Kučinskas syndrome by exome sequencing
7. P425: Unparalleled power of genome sequencing in screening ostensibly healthy newborns and children: Findings from the first real-world dataset
8. P502: How does multiomics help variant reclassification?
9. eP371: A diverse set of case presentation highlight the power of genome sequencing – What next?
10. eP355: Repeat expansion disorders screening by genome sequencing: Strategy and stumbling blocks
11. High diagnosis rate for nonimmune hydrops fetalis with prenatal clinical exome from the Hydrops-Yielding Diagnostic Results of Prenatal Sequencing (HYDROPS) Study
12. Fascioscapulohumeral muscular dystrophy genetic testing by optic mapping
13. Newborn screening second tier molecular testing is critical for identifying true positives in lysosomal storage diseases and X-linked adrenoleukodystrophy
14. Genetic basis of oculopharyngeal muscular dystrophy: detection of alanine repeats in PABPN1 gene by next generation sequencing
15. Towards implementation whole genome sequencing as a first tier test in genomic testing
16. 63 Hydrops-Yielding Diagnostic Results Of Prenatal Exome Sequencing (HYDROPS) Trial - Prenatal WES for NIHF
17. Low-Pass Genome Sequencing
18. Characterizing DNA Nanotube Networks Assembled via Y-Junction DNA Origami Seeds
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