Showing results (1-10 of 10) with videos related to
Sort By:
Pageof 1
Molecular Genetics and Metabolism Reports|January 9, 2023
A complex case of delayed diagnosis of ornithine transcarbamylase deficiency in an adult patient with multiple comorbiditiesJessica Abbott, Mia Senzatimore, Paldeep AtwalGenetics in Medicine : Official Journal of the American College of Medical Genetics|December 8, 2017
Observed frequency and challenges of variant reclassification in a hereditary cancer clinicSarah Macklin, Nisha Durand, Paldeep Atwal, et al.Journal of Clinical Neuromuscular Disease|February 22, 2017
Whole Exome Sequencing Identifies Atypical Welander Distal Myopathy in PatientJennifer Gass, Patrick Blackburn, Jessica Jackson, et al.Prion|December 9, 2016
Familial Creutzfeldt-Jakob Disease: Case report and role of genetic counseling in post mortem testingKristin Clift, Kimberly Guthrie, Eric W Klee, et al.Antioxidants (Basel, Switzerland)|July 2, 2021
RT001 in Progressive Supranuclear Palsy-Clinical and In-Vitro ObservationsPlamena R Angelova, Kristin M Andruska, Mark G Midei, et al.JIMD Reports|July 21, 2020
Treatment of infantile neuroaxonal dystrophy with RT001: A di-deuterated ethyl ester of linoleic acid: Report of two casesDarius Adams, Mark Midei, Jahannaz Dastgir, et al.Journal of Pharmaceutical Sciences|September 2, 2020
Plasma and Red Blood Cell Membrane Accretion and Pharmacokinetics of RT001 (bis-Allylic 11,11-D2-Linoleic Acid Ethyl Ester) during Long Term Dosing in PatientsJ Thomas Brenna, Genevieve James, Mark Midei, et al.Journal of Ultrasound in Medicine : Official Journal of the American Institute of Ultrasound in Medicine|May 11, 2016
Prenatally Diagnosed Cases of Binder Phenotype Complicated by Respiratory Distress in the Immediate Postnatal PeriodYair J Blumenfeld, Alexis S Davis, Susan R Hintz, et al.Journal of Clinical Medicine|August 28, 2025
Defining the Chronic Complexities of hEDS and HSD: A Global Survey of Diagnostic Challenges, Life-Long Comorbidities, and Unmet NeedsVictoria Daylor, Molly Griggs, Amy Weintraub, et al.Genome Medicine|April 20, 2021
Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disordersMadelyn A Gillentine, Tianyun Wang, Kendra Hoekzema, et al.Pageof 1