Publications by authors named "Colleen Wahl"

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An Exploratory Study of a Choreographic Approach to Golf Swing Dynamics: Bridging Biomechanics and Laban Movement Analysis.
Wangdo Kim, Albert H Vette, Wanda Ottes, Colleen Wahl

Sensors (Basel)· October 2024

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Anti-HMGCR myopathy may resemble limb-girdle muscular dystrophy.
Payam Mohassel, Océane Landon-Cardinal, A Reghan Foley, Sandra Donkervoort, Katherine S Pak, Colleen Wahl

Neurol Neuroimmunol Neuroinflamm· January 2019

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De Novo Missense Variants in TRAF7 Cause Developmental Delay, Congenital Anomalies, and Dysmorphic Features.
Mari J Tokita, Chun-An Chen, David Chitayat, Ellen Macnamara, Jill A Rosenfeld, Colleen Wahl

Am J Hum Genet· July 2018

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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, Colleen Wahl, Eva H Baker

Dev Med Child Neurol· December 2017

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Defining Disease, Diagnosis, and Translational Medicine within a Homeostatic Perturbation Paradigm: The National Institutes of Health Undiagnosed Diseases Program Experience.
Timothy Gall, Elise Valkanas, Christofer Bello, Thomas Markello, Christopher Adams, Colleen Wahl

Front Med (Lausanne)· May 2017

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Computational evaluation of exome sequence data using human and model organism phenotypes improves diagnostic efficiency.
William P Bone, Nicole L Washington, Orion J Buske, David R Adams, Joie Davis, Colleen Wahl

Genet Med· June 2016

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The implications of familial incidental findings from exome sequencing: the NIH Undiagnosed Diseases Program experience.
Lauren Lawrence, Murat Sincan, Thomas Markello, David R Adams, Fred Gill, Colleen Wahl

Genet Med· October 2014

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IgG4-related disease presenting as recurrent mastoiditis.
Adam I Schiffenbauer, Colleen Wahl, Stefania Pittaluga, Elaine S Jaffe, Ronald Hoffman

Laryngoscope· March 2012

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The National Institutes of Health Undiagnosed Diseases Program: insights into rare diseases.
William A Gahl, Thomas C Markello, Camilo Toro, Karin Fuentes Fajardo, Murat Sincan, Colleen Wahl

Genet Med· January 2012

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