Clinical Molecular Genetics

Listings: 1-20   21-40   41-47
Alphabetical     Date
Matchmaker Exchange
Nara L. M. Sobreira, Harindra Arachchi, Orion J. Buske, Jessica X. Chong, Ben Hutton, Julia Foreman, François Schiettecatte, Tudor Groza, Julius O.B. Jacobsen, Melissa A. Haendel, Kym M. Boycott, Ada Hamosh, Heidi L. Rehm, null null
Published online: October 2017
Copy‐Number Variants Detection by Low‐Pass Whole‐Genome Sequencing
Zirui Dong, Weiwei Xie, Haixiao Chen, Jinjin Xu, Huilin Wang, Yun Li, Jun Wang, Fang Chen, Kwong Wai Choy, Hui Jiang
Published online: July 2017
Genetic Testing for Hereditary Nonpolyposis Colorectal Cancer (HNPCC)
Babi Ramesh Reddy Nallamilli, Madhuri Hegde
Published online: July 2017
Labeling DNA Replication Foci to Visualize Chromosome Territories In Vivo
Apolinar Maya‐Mendoza, Dean A. Jackson
Published online: June 2017
Diagnosis of Spinocerebellar Ataxias Caused by Trinucleotide Repeat Expansions
Joanne E. Martindale
Published online: January 2017
Molecular Diagnosis of Myotonic Dystrophy
Sujata Chakraborty, Matteo Vatta, Linda L. Bachinski, Ralf Krahe, Stephen Dlouhy, Shaochun Bai
Published online: October 2016
Using ClinVar as a Resource to Support Variant Interpretation
Steven M. Harrison, Erin R. Riggs, Donna R. Maglott, Jennifer M. Lee, Danielle R. Azzariti, Annie Niehaus, Erin M. Ramos, Christa L. Martin, Melissa J. Landrum, Heidi L. Rehm
Published online: April 2016
Reporting of Diagnostic Cytogenetic Results
Anne B.S. Giersch, Frederick R. Bieber, Adrian M. Dubuc, Jonathan A. Fletcher, Azra H. Ligon, Heather Mason‐Suares, Cynthia C. Morton, Stanislawa Weremowicz, Sheng Xiao, Paola Dal Cin
Published online: April 2016
Spinal Muscular Atrophy: Overview of Molecular Diagnostic Approaches
Thomas W. Prior, Narasimhan Nagan
Published online: January 2016
Molecular Diagnosis of Cystic Fibrosis
Joshua L. Deignan, Wayne W. Grody
Published online: January 2016
Management of Incidental Findings in Clinical Genomic Sequencing
Joel B. Krier, Robert C. Green
Published online: October 2015
Huntington Disease: Molecular Diagnostics Approach
Murat Bastepe, Winnie Xin
Published online: October 2015
Use of Affymetrix Arrays in the Diagnosis of Gene Copy‐Number Variation
Farah R. Zahir, Marco A. Marra
Published online: April 2015
Molecular Diagnosis of Duchenne Muscular Dystrophy
Babi Ramesh Reddy Nallamilli, Arunkanth Ankala, Madhuri Hegde
Published online: October 2014
Quantitative Analysis of Copy Number Variants Based on Real‐Time LightCycler PCR
Lijiang Ma, Wendy K. Chung
Published online: January 2014
Molecular Analysis of Fragile X Syndrome
Monica J. Basehore, Michael J. Friez
Published online: January 2014
Nonrandom X Chromosome Inactivation Detection
Julie R. Jones
Published online: January 2014
Internet Resources in Medical Genetics
Darrel J. Waggoner
Published online: January 2014
Listings: 1-20   21-40   41-47