Clinical Molecular Genetics

Listings: 1-20   21-40   41-46
Alphabetical     Date
Overview of Molecular Genetic Diagnosis
Shuko Harada, Bruce R. Korf
Published online: January 2013
The Human Gene Mutation Database (HGMD) and Its Exploitation in the Fields of Personalized Genomics and Molecular Evolution
Peter D. Stenson, Edward V. Ball, Matthew Mort, Andrew D. Phillips, Katy Shaw, David N. Cooper
Published online: September 2012
Molecular Diagnosis of Hearing Loss
Kerry K. Brown, Heidi L. Rehm
Published online: January 2012
Diagnosis of Copper Transport Disorders
Lisbeth B. Møller, Julia D. Hicks, Courtney S. Holmes, David S. Goldstein, Cornelia Brendel, Peter Huppke, Stephen G. Kaler
Published online: July 2011
Quality Assurance and Quality Improvement in U.S. Clinical Molecular Genetic Laboratories
Bin Chen, C. Sue Richards, Jean Amos Wilson, Elaine Lyon
Published online: April 2011
Analysis of Mitochondrial DNA Point Mutation Heteroplasmy by ARMS Quantitative PCR
Jing Wang, Victor Venegas, Fangyuan Li, Lee‐Jun Wong
Published online: January 2011
Real‐Time Quantitative PCR Analysis of Mitochondrial DNA Content
Victor Venegas, Jing Wang, David Dimmock, Lee‐Jun Wong
Published online: January 2011
The Application of Computer‐Based Tools in Obtaining the Genetic Family History
Monica A. Giovanni, Michael F. Murray
Published online: July 2010
Single‐Cell DNA and FISH Analysis for Application to Preimplantation Genetic Diagnosis
Samuel S. Chong, Robert E. Gore‐Langton, Mark R. Hughes, Stanislawa Weremowicz
Published online: January 2010
Identifying Mutations for MYH‐Associated Polyposis
Thomas W. Prior, Scott J. Bridgeman
Published online: January 2010
Bone Marrow Engraftment Studies
Cindy L. Vnencak‐Jones
Published online: July 2009
Analysis of Oxidative Damage by Gene‐Specific Quantitative PCR
Olga A. Kovalenko, Janine H. Santos
Published online: July 2009
Analysis of Repetitive Regions in Myotonic Dystrophy Type 1 and 2
Nancy L. Carson
Published online: April 2009
Methylation‐Specific PCR
Bradford Coffee
Published online: April 2009
Robust Dosage PCR (RD‐PCR) for Highly Accurate Dosage Analysis
Vu Q. Nguyen, Qiang Liu, Steve S. Sommer
Published online: January 2009
MLPA and MAPH: Sensitive Detection of Deletions and Duplications
Johan T. den Dunnen, Stefan J. White
Published online: November 2006
Detection of Gene Fusions in Acute Leukemia Using Bead Microarrays
German Pihan
Published online: February 2006
DNA Mutation Detection Using Denaturing High‐Performance Liquid Chromatography (DHPLC)
Bing Yu, Nicole A. Sawyer, Christine Chiu, Peter J. Oefner, Peter A. Underhill
Published online: February 2006
Listings: 1-20   21-40   41-46