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American Journal of Medical Genetics. Part A|February 17, 2007
Disruption of a synaptotagmin (SYT14) associated with neurodevelopmental abnormalitiesFabiola Quintero-Rivera, Alicia Chan, Diana J Donovan, et al.Pediatrics|June 19, 2013
A patient with an inborn error of vitamin B12 metabolism (cblF) detected by newborn screeningChristine M Armour, Alison Brebner, David Watkins, et al.Journal of Child Neurology|December 31, 2003
Mild elevation of N-acetylaspartic acid and macrocephaly: diagnostic problemSankar Surendran, Fiona J Bamforth, Alicia Chan, et al.Orphanet Journal of Rare Diseases|September 15, 2022
Outcomes of mitochondrial long chain fatty acid oxidation and carnitine defects from a single center metabolic genetics clinicAnastasia Ambrose, Melissa Sheehan, Shalini Bahl, et al.Analytical Chemistry|November 29, 2021
Electrochemical Beacon Method to Quantify 10 Attomolar Nucleic Acids with a Semilog Dynamic Range of 7 Orders of MagnitudeRahul Tevatia, Alicia Chan, Lance Oltmanns, et al.Circulation. Cardiovascular Imaging|August 8, 2013
T₁ mapping with cardiovascular MRI is highly sensitive for Fabry disease independent of hypertrophy and sexRichard B Thompson, Kelvin Chow, Aneal Khan, et al.Molecular Genetics and Metabolism Reports|March 12, 2024
Clinical and biochemical phenotypes, genotypes, and long-term outcomes of individuals with galactosemia type I from a single metabolic genetics center in AlbertaNihal Almenabawy, Shalini Bahl, Alyssa-Lyn Ostlund, et al.Orphanet Journal of Rare Diseases|November 13, 2024
Genetic landscape of primary mitochondrial diseases in children and adults using molecular genetics and genomic investigations of mitochondrial and nuclear genomeAnastasia Ambrose, Shalini Bahl, Saloni Sharma, et al.Plos One|August 20, 2014
Mitochondriome and cholangiocellular carcinomaWesam Bahitham, Xiaoping Liao, Fred Peng, et al.Journal of the American Society of Echocardiography : Official Publication of the American Society of Echocardiography|October 16, 2013
Systolic and diastolic function assessment in fabry disease patients using speckle-tracking imaging and comparison with conventional echocardiographic measurementsMiriam Shanks, Richard B Thompson, Ian D Paterson, et al.Pageof 5