Jennifer M. Love
Auckland, AUK, New Zealand
Last Updated: 09/26/2026
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Found 12 publications
The natural history of elevated tetradecenoyl-L-carnitine detected by newborn screening in New Zealand: implications for very long chain acyl-CoA dehydrogenase deficiency screening and treatment.
Journal: Journal of inherited metabolic disease
Published: October 17, 2015
Two Novel GLDC Mutations in a Neonate with Nonketotic Hyperglycinemia.
Journal: Journal of pediatric genetics
Published: May 20, 2015
SNP Analysis and Whole Exome Sequencing: Their Application in the Analysis of a Consanguineous Pedigree Segregating Ataxia.
Journal: Microarrays (Basel, Switzerland)
Published: January 01, 2015
Array comparative genomic hybridization identifies a heterozygous deletion of the entire KCNJ2 gene as a cause of sudden cardiac death.
Journal: Circulation. Cardiovascular genetics
Published: January 08, 2014
Diagnostic genetics at a distance: von hippel-lindau disease and a novel mutation.
Journal: Genetics research international
Published: March 31, 2013
A novel glycine decarboxylase gene mutation in an Indian family with nonketotic hyperglycinemia.
Journal: Journal of child neurology
Published: January 26, 2013
Simple Repeat-Primed PCR Analysis of the Myotonic Dystrophy Type 1 Gene in a Clinical Diagnostics Environment.
Journal: Journal of neurodegenerative diseases
Published: January 01, 2013
Gene Dosage Analysis in a Clinical Environment: Gene-Targeted Microarrays as the Platform-of-Choice.
Gene Dosage Analysis in a Clinical Environment: Gene-Targeted Microarrays as the Platform-of-Choice.
Journal: Microarrays (Basel, Switzerland)
Published: January 01, 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 Analysis.
Journal: ISRN neurology
Published: December 13, 2012
Developmental delay referrals and the roles of Fragile X testing and molecular karyotyping: a New Zealand perspective.
Journal: Molecular medicine reports
Published: November 13, 2012
A novel 2.3 mb microduplication of 9q34.3 inserted into 19q13.4 in a patient with learning disabilities.
Journal: Case reports in pediatrics
Published: July 01, 2012
Array-based Identification of Copy Number Changes in a Diagnostic Setting: Simultaneous gene-focused and low resolution whole human genome analysis.
Journal: Sultan Qaboos University medical journal
Published: May 16, 2012
Showing 1-12 of 12
Last Updated: 09/26/2026