Stephanie Karch

Stephanie Karch

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Stephanie Karch

Stephanie Karch

Publications by authors named "Stephanie Karch"

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11Publications

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POLR3A variants with striatal involvement and extrapyramidal movement disorder.

Neurogenetics 2020 Jan 15. Epub 2020 Jan 15.

Department of Child Neurology, Center for Childhood White Matter Diseases, Emma Children's Hospital, Vrije Universiteit, and Amsterdam Neuroscience, Amsterdam University Medical Centers, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1007/s10048-019-00602-4DOI Listing
January 2020

What do parents expect from a genetic diagnosis of their child with intellectual disability?

J Appl Res Intellect Disabil 2019 Sep 15;32(5):1129-1137. Epub 2019 Apr 15.

Section for Neuropediatrics and Inborn Errors of Metabolism, University Children's Hospital, Clinic I, Heidelberg, Germany.

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http://dx.doi.org/10.1111/jar.12602DOI Listing
September 2019

Defining Normal Balance for Army Aviators.

Mil Med 2019 Jul;184(7-8):e296-e300

U.S. Army Aeromedical Research Laboratory, 6901 Farrel Rd, Ft Rucker, AL.

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http://dx.doi.org/10.1093/milmed/usz064DOI Listing
July 2019

Diagnosis of CoPAN by whole exome sequencing: Waking up a sleeping tiger's eye.

Am J Med Genet A 2017 Jul 10;173(7):1878-1886. Epub 2017 May 10.

Institute of Human Genetics, Heidelberg University, Heidelberg, Germany.

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http://dx.doi.org/10.1002/ajmg.a.38252DOI Listing
July 2017

Hearing Loss and Tinnitus in Military Personnel with Deployment-Related Mild Traumatic Brain Injury.

US Army Med Dep J 2016 Oct-Dec(3-16):52-63

US Army Aeromedical Research Laboratory, Fort Rucker, Alabama.

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April 2017