Fern Ashton
Auckland, AUK 1023, New Zealand
Last Updated: 09/26/2026
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Found 9 publications
Compound heterozygous SLC19A3 mutations further refine the critical promoter region for biotin-thiamine-responsive basal ganglia disease.
Journal: Cold Spring Harbor molecular case studies
Published: February 14, 2017
Microarray testing in clinical diagnosis: an analysis of 5,300 New Zealand patients.
Journal: Molecular cytogenetics
Published: February 08, 2016
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
Microduplication of 3p26.3 implicated in cognitive development.
Journal: Case reports in genetics
Published: December 16, 2013
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
The p.Ala510Val mutation in the SPG7 (paraplegin) gene is the most common mutation causing adult onset neurogenetic disease in patients of British ancestry.
Journal: Journal of neurology
Published: July 06, 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
Implications of a Chr7q21.11 Microdeletion and the Role of the PCLO Gene in Developmental Delay.
Journal: Sultan Qaboos University medical journal
Published: May 17, 2012
Amino-Terminal Microdeletion within the CNTNAP2 Gene Associated with Variable Expressivity of Speech Delay.
Journal: Case reports in genetics
Published: February 21, 2012
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Last Updated: 09/26/2026