Výsledky vyhledávání - Christopher Elzinga
- Zobrazuji výsledky 1 - 4 z 4
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1
Development and Validation of a Next-Generation Sequencing Assay for BRCA1 and BRCA2 Variants for the Clinical Laboratory Autor Charles M. Strom, Steven Rivera, Christopher Elzinga, Taraneh Angeloni, Sun Hee Rosenthal, Dana M. Goos-Root, Martin Siaw, Jamie L. Platt, Cory Braastadt, Linda Cheng, David A. Ross, Weimin Sun
Vydáno 2015Artigo -
2
The allelic spectrum of Charcot–Marie–Tooth disease in over 17,000 individuals with neuropathy Autor Christina DiVincenzo, Christopher Elzinga, Adam C. Medeiros, Izabela Karbassi, Jeremiah Jones, Matthew C. Evans, Corey Braastad, Crystal M. Bishop, Malgorzata Jaremko, Zhenyuan Wang, Khalida Liaquat, Carol Hoffman, Michelle York, Sat Dev Batish, James R. Lupski, Joseph Higgins
Vydáno 2014Artigo -
3
A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders Autor 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
Vydáno 2015Artigo -
4
BRCA Share: A Collection of Clinical BRCA Gene Variants Autor Christophe Béroud, Stanley Letovsky, Corey Braastad, Sandrine M. Caputo, Olivia Beaudoux, Yves Jean Bignon, Brigitte Bressac–de Paillerets, Myriam Bronner, Crystal M. Buell, Gwenaëlle Collod‐Béroud, Florence Coulet, Nicolas Derive, Christina DiVincenzo, Christopher Elzinga, Céline Garrec, Claude Houdayer, Izabela Karbassi, Sarab Lizard, Angela Love, Danièle Muller, Narasimhan Nagan, Camille Nery, Ghadi Raï, Françoise Révillion, David Salgado, Nicolas Sévenet, Olga M. Sinilnikova, Hagay Sobol, Dominique Stoppa‐Lyonnet, Christine Toulas, Edwin Trautman, Dominique Vaur, Paul Vilquin, Katelyn S. Weymouth, Alecia Willis, Marcia Eisenberg, Charles M. Strom
Vydáno 2016Artigo
Vyhledávací nástroje:
Související témata
Biology
Genetics
Gene
Sanger sequencing
Computational biology
Computer network
Computer science
Concordance
Confidence interval
DNA
DNA sequencing
Database
Exon
Frameshift mutation
Gene duplication
Genetic testing
Germline
Internal medicine
Ion semiconductor sequencing
Massive parallel sequencing
Medicine
Mendelian inheritance
Microbiology
Missense mutation
Molecular biology
Multiplex ligation-dependent probe amplification
Mutation
Odds ratio
Pathogenicity
Resource (disambiguation)