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American Journal of Medical Genetics. Part A|November 30, 2020
Heterozygous recurrent HNF4A variant p.Arg85Trp causes Fanconi renotubular syndrome 4 with maturity onset diabetes of the young, an autosomal dominant phenocopy of Fanconi Bickel syndrome with colobomasSarah E Sheppard, Brett Barrett, Colleen Muraresku, et al.Journal of Neurophysiology|December 6, 2002
The rat lumbosacral spinal cord adapts to robotic loading applied during stanceW K Timoszyk, R D De Leon, N London, et al.Nature Genetics|February 1, 1995
Genetic analysis of idiopathic torsion dystonia in Ashkenazi Jews and their recent descent from a small founder populationN Risch, D de Leon, L Ozelius, et al.Neurology|December 11, 2002
Diagnostic criteria for dystonia in DYT1 familiesS B Bressman, D Raymond, K Wendt, et al.Progress in Brain Research|November 21, 2002
Use of robotics in assessing the adaptive capacity of the rat lumbar spinal cordRay D de Leon, David J Reinkensmeyer, Wojciech K Timoszyk, et al.The Journal of Clinical Endocrinology and Metabolism|October 9, 2024
Low-level mosaic GCK mutations in children with diazoxide-unresponsive congenital hyperinsulinismKara E Boodhansingh, Katherine Lord, N Scott Adzick, et al.Frontiers in Physiology|May 5, 2012
Accommodation of the spinal cat to a tripping perturbationHui Zhong, Roland R Roy, Kenneth K Nakada, et al.Acta Anatomica|January 1, 1991
Architectural and fiber type distribution properties of selected rhesus leg muscles: feasibility of multiple independent biopsiesR R Roy, S C Bodine-Fowler, J Kim, et al.The Journal of Clinical Investigation|April 4, 2007
Preexisting pancreatic acinar cells contribute to acinar cell, but not islet beta cell, regenerationBiva M Desai, Jennifer Oliver-Krasinski, Diva D De Leon, et al.The Journal of Neuroscience : the Official Journal of the Society for Neuroscience|April 12, 2002
Use-dependent modulation of inhibitory capacity in the feline lumbar spinal cordNiranjala J K Tillakaratne, Ray D de Leon, Thao X Hoang, et al.Pageof 16