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Ephrem L H Chin

Showing results (1-10 of 7) with videos related to

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BMC Genetics|February 20, 2013
Assessment of clinical analytical sensitivity and specificity of next-generation sequencing for detection of simple and complex mutationsEphrem L H Chin, Cristina da Silva, Madhuri Hegde
Orphanet Journal of Rare Diseases|June 19, 2012
Array CGH improves detection of mutations in the GALC gene associated with Krabbe diseaseAlice K Tanner, Ephrem L H Chin, Patricia K Duffner, et al.
BMC Genetics|December 6, 2013
Detection limit of intragenic deletions with targeted array comparative genomic hybridizationS Hussain Askree, Ephrem L H Chin, Lora 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.
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.
Human Mutation|July 30, 2008
Microarray-based mutation detection in the dystrophin geneMadhuri R Hegde, Ephrem L H Chin, Jennifer G Mulle, et al.
Nature Biotechnology|November 10, 2012
Assuring the quality of next-generation sequencing in clinical laboratory practiceAmy S Gargis, Lisa Kalman, Meredith W Berry, et al.
Pageof 1

Showing results (1-10 of 7) with videos related to

Sort By:
Pageof 1
BMC Genetics|February 20, 2013
Assessment of clinical analytical sensitivity and specificity of next-generation sequencing for detection of simple and complex mutationsEphrem L H Chin, Cristina da Silva, Madhuri Hegde
Orphanet Journal of Rare Diseases|June 19, 2012
Array CGH improves detection of mutations in the GALC gene associated with Krabbe diseaseAlice K Tanner, Ephrem L H Chin, Patricia K Duffner, et al.
BMC Genetics|December 6, 2013
Detection limit of intragenic deletions with targeted array comparative genomic hybridizationS Hussain Askree, Ephrem L H Chin, Lora 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.
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.
Human Mutation|July 30, 2008
Microarray-based mutation detection in the dystrophin geneMadhuri R Hegde, Ephrem L H Chin, Jennifer G Mulle, et al.
Nature Biotechnology|November 10, 2012
Assuring the quality of next-generation sequencing in clinical laboratory practiceAmy S Gargis, Lisa Kalman, Meredith W Berry, et al.
Pageof 1