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Sensors (Basel, Switzerland)|November 9, 2024
An Exploratory Study of a Choreographic Approach to Golf Swing Dynamics: Bridging Biomechanics and Laban Movement AnalysisWangdo Kim, Albert H Vette, Wanda Ottes, et al.
Developmental Medicine and Child Neurology|August 2, 2017
Late diagnosis and atypical brain imaging of Aicardi-Goutières syndrome: are we failing to diagnose Aicardi-Goutières syndrome-2?Leah Svingen, Mitchell Goheen, Rena Godfrey, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 3, 2014
The implications of familial incidental findings from exome sequencing: the NIH Undiagnosed Diseases Program experienceLauren Lawrence, Murat Sincan, Thomas Markello, et al.
Neurology(R) Neuroimmunology & Neuroinflammation|December 28, 2018
Anti-HMGCR myopathy may resemble limb-girdle muscular dystrophyPayam Mohassel, Océane Landon-Cardinal, A Reghan Foley, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 13, 2012
The National Institutes of Health Undiagnosed Diseases Program: insights into rare diseasesWilliam A Gahl, Thomas C Markello, Camilo Toro, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 13, 2015
Computational evaluation of exome sequence data using human and model organism phenotypes improves diagnostic efficiencyWilliam P Bone, Nicole L Washington, Orion J Buske, et al.
American Journal of Human Genetics|July 3, 2018
De Novo Missense Variants in TRAF7 Cause Developmental Delay, Congenital Anomalies, and Dysmorphic FeaturesMari J Tokita, Chun-An Chen, David Chitayat, et al.
Frontiers in Medicine|June 13, 2017
Defining Disease, Diagnosis, and Translational Medicine within a Homeostatic Perturbation Paradigm: The National Institutes of Health Undiagnosed Diseases Program ExperienceTimothy Gall, Elise Valkanas, Christofer Bello, et al.
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