檢索結果 - Arlene Buller
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Qualitative assessment of FMR1 (CGG)n triplet repeat status in normal, intermediate, premutation, full mutation, and mosaic carriers in both sexes: Implications for fragile X syndr... 由 Feras Hantash, Dana G. Goos, David Tsao, Franklin Quan, Arlene Buller‐Burckle, Mei Peng, Michael Jarvis, Weimin Sun, Charles M. Strom
出版 2010Artigo -
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A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders 由 Izabela Karbassi, Glenn A. Maston, Angela Love, Christina DiVincenzo, Corey Braastad, Christopher Elzinga, Alison Bright, Domenic J. Previte, Ke Zhang, Charles M. Rowland, Michele McCarthy, Jennifer L. Lapierre, Felicita Dubois, Katelyn A. Medeiros, Sat Dev Batish, Jeffrey B. Jones, Khalida Liaquat, Carol Hoffman, Malgorzata Jaremko, Zhenyuan Wang, Weimin Sun, Arlene Buller‐Burckle, Charles M. Strom, Steven Keiles, Joseph Higgins
出版 2015Artigo -
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Characterization of 107 Genomic DNA Reference Materials for CYP2D6, CYP2C19, CYP2C9, VKORC1, and UGT1A1 由 Victoria M. Pratt, Barbara A. Zehnbauer, Jean Amos Wilson, Ruth Baak, Nikolina Babić, Maria Bettinotti, Arlene Buller, Ken Butz, Matthew A. Campbell, Chris Civalier, Abdalla El-Badry, Daniel H. Farkas, Elaine Lyon, Saptarshi Mandal, Jason T. McKinney, Kasinathan Muralidharan, LeAnne Noll, Tara L. Sander, Junaid Shabbeer, Chingying Smith, Milhan Telatar, Lorraine H. Toji, Anand Vairavan, Carlos Vance, Karen E. Weck, Alan H.B. Wu, Kiang-Teck J Yeo, Markus Zeller, Lisa V. Kalman
出版 2010Artigo
相關主題
Biology
Gene
Genetics
Medicine
Allele
Anthropology
CYP2C19
Environmental health
Ethnic group
Genotype
Internal medicine
Population
Sociology
Allele frequency
Amplicon
CYP2C9
Capillary electrophoresis
Carrier testing
Computational biology
Concordance
Confidence interval
Cystic fibrosis
DNA
FMR1
Fetus
Fragile X syndrome
Genetic counseling
Genetic testing
Genotyping
Haplotype