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Congenital Anomalies|March 23, 2024
Undiagnosed rare disease clinic identifies a novel UBE3A variant in two sisters with Angelman syndrome: The end of a diagnostic odysseyRebecca Bruns, Khurram Liaqat, Abdul Nasir, et al.Biochemistry|October 4, 2007
Amyloid-beta(1-42) rapidly forms protofibrils and oligomers by distinct pathways in low concentrations of sodium dodecylsulfateVijayaraghavan Rangachari, Brenda D Moore, Dana Kim Reed, et al.JIMD Reports|October 15, 2017
Mitochondrial 3-Hydroxy-3-Methylglutaryl-CoA Synthase Deficiency: Unique Presenting Laboratory Values and a Review of Biochemical and Clinical FeaturesErin Conboy, Filippo Vairo, Matthew Schultz, et al.Pediatrics|November 25, 2018
Diagnosis of Attenuated Mucopolysaccharidosis VI: Clinical, Biochemical, and Genetic PitfallsFilippo Pinto E Vairo, Erin Conboy, Carolina Fischinger Moura de Souza, et al.Molecular Genetics & Genomic Medicine|November 26, 2024
Performance of Dysmorphology-Based Screening for Genetic Disorders in Pediatric Congenital Heart Disease Supports Wider Genetic TestingBenjamin M Helm, Lindsey R Helvaty, Erin Conboy, et al.Journal of Medical Genetics|September 5, 2015
Paraspinal neurofibromas and hypertrophic neuropathy in Noonan syndrome with multiple lentiginesErin Conboy, Radhika Dhamija, Margaret Wang, et al.JMIR Pediatrics and Parenting|July 16, 2026
Development of a Virtual Transition Program for Adolescents and Young Adults With Type 1 Diabetes: Three-Stage User-Centered Design StudySarah Cary Haynes, Patrick S Romano, Salvador Lopez, et al.Molecular Genetics and Metabolism|November 23, 2019
Multiplex testing for the screening of lysosomal storage disease in urine: Sulfatides and glycosaminoglycan profiles in 40 cases of sulfatiduriaGisele Pino, Erin Conboy, Silvia Tortorelli, et al.Molecular Genetics and Metabolism Reports|August 24, 2017
The prevalence of diseases caused by lysosome-related genes in a cohort of undiagnosed patientsFilippo Pinto Vairo, Nicole J Boczek, Margot A Cousin, et al.Cold Spring Harbor Molecular Case Studies|November 28, 2022
Characterization of a novel deep-intronic variant in DYNC2H1 identified by whole-exome sequencing in a patient with a lethal form of a short-rib thoracic dysplasia type IIIMuqsit Buchh, Patrick J Gillespie, Kayla Treat, et al.Pageof 7