Showing results (1-10 of 36) with videos related to

Sort By:
Pageof 4
The Journal of Biological Chemistry|November 15, 2001
Regulation of the accumulation and function of p53 by phosphorylation of two residues within the domain that binds to Mdm2Lora J H Bean, George R Stark
Human Mutation|March 3, 2016
Gene Variant Databases and Sharing: Creating a Global Genomic Variant Database for Personalized MedicineLora J H Bean, Madhuri R Hegde
Genome Medicine|December 20, 2017
Clinical implications and considerations for evaluation of in silico algorithms for use with ACMG/AMP clinical variant interpretation guidelinesLora J H Bean, Madhuri R Hegde
Human Mutation|June 13, 2013
Free the data: one laboratory's approach to knowledge-based genomic variant classification and preparation for EMR integration of genomic dataLora J H Bean, Stuart W Tinker, Cristina da Silva, et al.
American Journal of Medical Genetics. Part A|March 11, 2015
A 7-month-old male with Allan-Herndon-Dudley syndrome and the power of T3Katherine G Langley, Steven Trau, Lora J H Bean, et al.
The Journal of Molecular Diagnostics : JMD|July 20, 2010
A simple method to confirm and size deletion, duplication, and insertion mutations detected by sequence analysisLawrence N Hjelm, Ephrem L H Chin, Madhuri R Hegde, et al.
European Journal of Medical Genetics|April 6, 2017
Caution in interpretation of disease causality for heterozygous loss-of-function variants in the MYH8 gene associated with autosomal dominant disorderZunyan Dai, Zachary Whitt, Lindsey C Mighion, et al.
Bioinformatics (Oxford, England)|October 2, 2008
Smarter clustering methods for SNP genotype callingYan Lin, George C Tseng, Soo Yeon Cheong, et al.
American Journal of Human Genetics|November 16, 2016
Reassessment of Genomic Sequence Variation to Harmonize Interpretation for Personalized MedicineKathryn B Garber, Lisa M Vincent, John J Alexander, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 14, 2009
Targeted comparative genomic hybridization array for the detection of single- and multiexon gene deletions and duplicationsMarwan K Tayeh, Ephrem L H Chin, Vanessa R Miller, et al.
Pageof 4