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Allergy, Asthma, and Clinical Immunology : Official Journal of the Canadian Society of Allergy and Clinical Immunology|November 3, 2021
Neonatal abstinence syndrome is a potential cause of low TREC copy numberAdil Adatia, Ling Ling, Pranesh Chakraborty, et al.American Journal of Medical Genetics. Part A|September 1, 2023
The mitochondrial tRNA MT-TW m.5537_5538insT variant presents with significant intra-familial clinical variabilityLauren Strasser, Asif Doja, Jorge Davila, et al.Journal of Developmental and Behavioral Pediatrics : JDBP|April 21, 2023
Newborn Screening Conditions: Early Intervention and Probability of Developmental DelayElizabeth Reynolds, Sheresa Blanchard, Elizabeth Jalazo, et al.Healthcare Quarterly (Toronto, Ont.)|April 25, 2022
Patient Engagement in a Multi-Stakeholder Workshop to Plan the Collection of Patient-Oriented Outcomes for Children with Inherited Metabolic DiseasesKylie Tingley, Maureen Smith, Nicole Pallone, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 10, 2015
Translating rare-disease therapies into improved care for patients and families: what are the right outcomes, designs, and engagement approaches in health-systems research?Beth K Potter, Sara D Khangura, Kylie Tingley, et al.Canadian Liver Journal|March 20, 2024
Decoding hepatorenal tyrosinemia type 1: Unraveling the impact of early detection, NTBC, and the role of liver transplantationMohit Kehar, Moinak Sen Sarma, Jayendra Seetharaman, et al.Canadian Journal of Anaesthesia = Journal Canadien D'Anesthesie|October 30, 2012
Effectiveness of preoperative screening for sickle cell disease in a population with a newborn screening program: a cohort studyJames D O'Leary, Isaac Odame, Carolyne Pehora, et al.Clinics in Perinatology|May 5, 2024
Estimating Gestational Age and Prediction of Preterm Birth Using Metabolomics BiomarkersVictoria C Ward, Steven Hawken, Pranesh Chakraborty, et al.Orphanet Journal of Rare Diseases|January 13, 2021
Stakeholder perspectives on clinical research related to therapies for rare diseases: therapeutic misconception and the value of researchKylie Tingley, Doug Coyle, Ian D Graham, et al.American Journal of Medical Genetics|November 20, 2002
An active ring X and haploinsufficiency of SHOX contribute to short stature, congenital anomalies, and developmental delay in a femaleMary Shago, Michael Sgro, Tony Barozzino, et al.Pageof 21