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The American Journal of the Medical Sciences|July 25, 2020
Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC): Report of a Family PedigreeGrace Choi, Virginia Kimonis, Katherine Hall, et al.
Mitochondrion|August 31, 2018
Meta-analysis of genotype-phenotype analysis of OPA1 mutations in autosomal dominant optic atrophyMichelle Ham, Julia Han, Kathryn Osann, et al.
Molecular Genetics and Metabolism|April 20, 2026
Glycoproteinoses: Clinical features, therapeutic landscape, and regulatory pathways in rare lysosomal disordersKrista Casazza, Virginia Kimonis, Chester B Whitley, et al.
Muscle & Nerve|March 29, 2024
Cross-sectional study of patients with VCP multisystem proteinopathy 1 using dual-energy x-ray absorptiometryRod Carlo Agram Columbres, Vu Luu, Minh Nguyen, et al.
European Journal of Medical Genetics|March 20, 2022
Severe cardiomyopathy associated with the VCP p.R155C and c.177_187del MYBPC3 gene variantsNicole Choy, Stephani Wang, Pablo Abbona, et al.
Orphanet Journal of Rare Diseases|April 14, 2025
Utilization of CoRDS registry to monitor quality of life in patients with VCP multisystem proteinopathyEiman Abdoalsadig, Merwa Hamid, Allison Peck, et al.
The Cleft Palate-Craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association|March 13, 2008
Subglossopalatal synechia in association with cardiac and digital anomaliesAlbert K Oh, Joseph Thakuria, Virginia Kimonis, et al.
American Journal of Medical Genetics. Part A|April 23, 2018
Comparison of perinatal factors in deletion versus uniparental disomy in Prader-Willi syndromeJune-Anne Gold, Ranim Mahmoud, Suzanne B Cassidy, et al.
Scientific Reports|March 12, 2024
Bone scan findings of Paget's disease of bone in patients with VCP Multisystem Proteinopathy 1Rod Carlo Agram Columbres, Sarosh Din, Liliane Gibbs, et al.
European Archives of Oto-Rhino-Laryngology : Official Journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : Affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery|January 6, 2012
Genetics of hearing loss: where are we standing now?Hossein Mahboubi, Sami Dwabe, Matthew Fradkin, et al.
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