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Microduplication of 3p26.3 implicated in cognitive development.
Te Weehi L, Maikoo R, Mc Cormack A, Mazzaschi R, Ashton F, Zhang L, George AM, Love DR. Te Weehi L, et al. Among authors: ashton f. Case Rep Genet. 2014;2014:295359. doi: 10.1155/2014/295359. Epub 2014 Feb 13. Case Rep Genet. 2014. PMID: 24778888 Free PMC article.
Microarray testing in clinical diagnosis: an analysis of 5,300 New Zealand patients.
Mc Cormack A, Claxton K, Ashton F, Asquith P, Atack E, Mazzaschi R, Moverley P, O'Connor R, Qorri M, Sheath K, Love DR, George AM. Mc Cormack A, et al. Among authors: ashton f. Mol Cytogenet. 2016 Mar 31;9:29. doi: 10.1186/s13039-016-0237-9. eCollection 2016. Mol Cytogenet. 2016. PMID: 27034718 Free PMC article.
Compound heterozygous SLC19A3 mutations further refine the critical promoter region for biotin-thiamine-responsive basal ganglia disease.
Whitford W, Hawkins I, Glamuzina E, Wilson F, Marshall A, Ashton F, Love DR, Taylor J, Hill R, Lehnert K, Snell RG, Jacobsen JC. Whitford W, et al. Among authors: ashton f. Cold Spring Harb Mol Case Stud. 2017 Nov 21;3(6):a001909. doi: 10.1101/mcs.a001909. Print 2017 Nov. Cold Spring Harb Mol Case Stud. 2017. PMID: 28696212 Free PMC article.
12 results