Last Updated: 09/26/2026
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Found 9 publications
Genetic Services in Appalachia Conference Series.
Journal: American journal of medical genetics. Part A
Published: May 03, 2024
The interplay of psychosis and non-compliance with fatal outcome in an adult with MSUD.
Journal: American journal of medical genetics. Part A
Published: November 06, 2023
Genetics Lessons From Rare Patients.
Journal: Academic medicine : journal of the Association of American Medical Colleges
Published: December 20, 2022
A 77-year odyssey to a rare disease diagnosis.
Journal: Journal of the American Geriatrics Society
Published: June 08, 2022
A pilot study of home-based genetic testing completion rate in telegenetics cancer clinics in West Virginia Appalachia.
Journal: American journal of medical genetics. Part A
Published: April 06, 2022
Genetics education in primary care residency training: satisfaction and current barriers.
Journal: BMC primary care
Published: March 01, 2022
Mutations in KCNK4 that Affect Gating Cause a Recognizable Neurodevelopmental Syndrome.
Journal: American journal of human genetics
Published: July 06, 2018
22q11.2q13 duplication including SOX10 causes sex-reversal and peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, and Hirschsprung disease.
Journal: American journal of medical genetics. Part A
Published: September 26, 2016
Showing 1-9 of 9
Last Updated: 09/26/2026