Torthaí cuardaigh - Abhinav Mathur
- 1 - 3 toradh as 3 á dtaispeáint
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A single NGS‐based assay covering the entire genomic sequence of the <i>DMD</i> gene facilitates diagnostic and newborn screening confirmatory testing de réir Babi Ramesh Reddy Nallamilli, Alka Chaubey, C. Alexander Valencia, Leah Stansberry, Andrea Behlmann, Zeqiang Ma, Abhinav Mathur, Suresh Shenoy, Srividya Ganapathy, Lakshmanan Jagannathan, Vinish Ramachander, Alessandra Ferlini, Lora Jh Bean, Madhuri Hegde
Foilsithe / Cruthaithe 2021Artigo -
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Clinical Impact and Cost-Effectiveness of Whole Exome Sequencing as a Diagnostic Tool: A Pediatric Center’s Experience de réir C. Alexander Valencia, Ammar Husami, Jennifer Holle, Judith A. Johnson, Yaping Qian, Abhinav Mathur, Chao Wei, Subba Rao Indugula, Fanggeng Zou, Haiying Meng, Lijun Wang, Xia Li, Rachel S. Fisher, Tony Tan, Amber Begtrup, Kathleen Collins, Katie Wusik, Derek Neilson, Thomas Andrew Burrow, Elizabeth K. Schorry, Robert J. Hopkin, Mehdi Keddache, John B. Harley, Kenneth M. Kaufman, Kejian Zhang
Foilsithe / Cruthaithe 2015Artigo
Uirlisí cuardaigh:
Ábhair a bhaineann le hábhar
Biology
Gene
Genetic testing
Genetics
Internal medicine
Medicine
Apixaban
Atrial fibrillation
Bioinformatics
Breakpoint
Carrier testing
Chromosomal translocation
Coding region
Cohort
Computational biology
Copy-number variation
DNA sequencing
Disease
Edoxaban
Exome sequencing
Exon
Fetus
Genome
Intensive care medicine
Lenalidomide
Medical genetics
Multiple myeloma
Multiplex
Multiplex ligation-dependent probe amplification
Mutation