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Kit Doudney

University of Otago

9

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79

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PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new families.

2021 Genetics in Medicine
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The Variants of Takotsubo Syndrome Differ in More Ways Than Just the Echo Pattern

2018 Heart Lung and Circulation
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PPA2 gene is involved in neonatal fatal acute dilated cardiomyopathy

2018 Archives of Cardiovascular Diseases Supplements
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Copy number variants implicate cardiac function and development pathways in earthquake-induced stress cardiomyopathy

2018 Scientific Reports
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Sudden Cardiac Death Due to Deficiency of the Mitochondrial Inorganic Pyrophosphatase PPA2

2016 American Journal of Human Genetics
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Valproic acid exposure leads to upregulation and increased promoter histone acetylation of sepiapterin reductase in a serotonergic cell line.

2015 Neuropharmacology
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G-quadruplex structures and CpG methylation cause drop-out of the maternal allele in polymerase chain reaction amplification of the imprinted MEST gene promoter.

2014 PLOS ONE
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Upstream genetic variant near INSIG2, influences response to carnitine supplementation in bipolar patients with valproate‐induced weight gain

2009 Acta Neuropsychiatrica
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Citations (1)