Gene Dosage Analysis in a Clinical Environment: Gene-Targeted Microarrays as the Platform-of-Choice

por Marquis-Nicholson, Renate, Prosser, Debra, Love, Jennifer M., Love, Donald R.
Publicado 2013

A Streamlined Protocol for Molecular Testing of the DMD Gene within a Diagnostic Laboratory: A Combination of Array Comparative Genomic Hybridization and Bidirectional Sequence Ana...

por Marquis-Nicholson, Renate, Lai, Daniel, Lan, Chuan-Ching, Love, Jennifer M., Love, Donald R.
Publicado 2013

Diabetic Dead-in-Bed Syndrome: A Possible Link to a Cardiac Ion Channelopathy

por Skinner, Jonathan R., Marquis-Nicholson, Renate, Luangpraseuth, Alix, Cutfield, Rick, Crawford, Jackie, Love, Donald R.
Publicado 2014

A Novel 2.3 Mb Microduplication of 9q34.3 Inserted into 19q13.4 in a Patient with Learning Disabilities

por Singh, Shalinder, Ashton, Fern, Marquis-Nicholson, Renate, Love, Jennifer M., Lan, Chuan-Ching, Aftimos, Salim, George, Alice M., Love, Donald R.
Publicado 2012

SNP Analysis and Whole Exome Sequencing: Their Application in the Analysis of a Consanguineous Pedigree Segregating Ataxia

por Nickerson, Sarah L., Marquis-Nicholson, Renate, Claxton, Karen, Ashton, Fern, Leong, Ivone U. S., Prosser, Debra O., Love, Jennifer M., George, Alice M., Taylor, Graham, Wilson, Callum, McKinlay Gardner, R. J., Love, Donald R.
Publicado 2015