Rezultati - David A. Adams
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Exome sequencing and SNP analysis detect novel compound heterozygosity in fatty acid hydroxylase-associated neurodegeneration od Tyler Mark Pierson, Dimitre R. Simeonov, Murat Sincan, David A. Adams, Thomas C. Markello, Gretchen Golas, Karin Fuentes‐Fajardo, Nancy F. Hansen, Praveen F. Cherukuri, Pedro Cruz, James C. Mullikin, Craig Blackstone, Cynthia J. Tifft, Cornelius F. Boerkoel, William A. Gahl, NISC Comparative Sequencing Program
Izdano 2011Artigo -
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Yield of whole exome sequencing in undiagnosed patients facing insurance coverage barriers to genetic testing od Chloe M. Reuter, Jennefer N. Kohler, Devon Bonner, Diane B. Zastrow, Liliana Fernández, Annika M. Dries, Shruti Marwaha, Jean M. Davidson, Elly Brokamp, Matthew Herzog, Joyce Hong, Ellen F. Macnamara, Jill A. Rosenfeld, Kelly Schoch, Rebecca C. Spillmann, Joseph Loscalzo, Joel B. Krier, Joan M. Stoler, David A. Sweetser, Christina G.S. Palmer, John A. Phillips, Vandana Shashi, David A. Adams, Yaping Yang, Euan A. Ashley, Paul G. Fisher, John J. Mulvihill, Jonathan A. Bernstein, Matthew T. Wheeler
Izdano 2019Artigo
Iskalna orodja:
Sorodne teme
Biology
Gene
Exome sequencing
Genetics
Internal medicine
Medicine
Mutation
Acetylation
Ataxia
Biochemistry
Biophysics
Chemical physics
Chemistry
Chromatosome
Compound heterozygosity
DNA
Denial
Disease
Disease gene identification
Dystonia
Economic growth
Economics
Family medicine
Galaxy
Genetic counseling
Genetic testing
Globular cluster
Health care
Health insurance
Hereditary spastic paraplegia