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Case Reports in Pediatrics|December 1, 2012
A novel 2.3 mb microduplication of 9q34.3 inserted into 19q13.4 in a patient with learning disabilitiesShalinder Singh, Fern Ashton, Renate Marquis-Nicholson, et al.Open Heart|March 1, 2016
Inpatient detection of cardiac-inherited disease: the impact of improving family history takingKathryn E Waddell-Smith, Tom Donoghue, Stephanie Oates, et al.The New England Journal of Medicine|June 23, 2016
A Prospective Study of Sudden Cardiac Death among Children and Young AdultsRichard D Bagnall, Robert G Weintraub, Jodie Ingles, et al.Molecular Medicine Reports|March 26, 2013
Developmental delay referrals and the roles of Fragile X testing and molecular karyotyping: a New Zealand perspectiveElaine Doherty, Rachel O'Connor, Anna Zhang, et al.Journal of Human Genetics|February 26, 2025
Germline mosaicism in TCF20-associated neurodevelopmental disorders: a case study and literature reviewJessie Poquérusse, Whitney Whitford, Juliet Taylor, et al.Journal of Inherited Metabolic Disease|January 9, 2016
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 treatmentBryony Ryder, Detlef Knoll, Donald R Love, et al.Pediatric Research|March 22, 2006
Early low cardiac output is associated with compromised electroencephalographic activity in very preterm infantsClaire R West, Alan M Groves, Chris E Williams, et al.Plos One|April 20, 2018
Long QT molecular autopsy in sudden unexplained death in the young (1-40 years old): Lessons learnt from an eight year experience in New ZealandLuciana Marcondes, Jackie Crawford, Nikki Earle, et al.The British Journal of Nutrition|December 14, 2011
Effects of kiwifruit extracts on colonic gene and protein expression levels in IL-10 gene-deficient miceShelley J Edmunds, Nicole C Roy, Marcus Davy, et al.Circulation. Arrhythmia and Electrophysiology|July 31, 2015
Physical and Psychological Consequences of Left Cardiac Sympathetic Denervation in Long-QT Syndrome and Catecholaminergic Polymorphic Ventricular TachycardiaKathryn E Waddell-Smith, Kjetil N Ertresvaag, Jian Li, et al.Pageof 19