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Molecular Syndromology|August 9, 2024
A Case of Lateral Meningocele Syndrome without Lateral MeningocelesDerek Rubadeux, Joshua W Owens, Amelle ShillingtonMolecular Syndromology|October 9, 2025
Long-Term Renal Transplant Success Is Possible in Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia Syndrome: A Case ReportLauren Alvey, Vignesh Viswanath, Joshua W Owens, et al.Psychiatric Genetics|June 6, 2024
Arginine, glycine, and creatine supplementation improves symptoms in a female with creatine transporter deficiencyKara Tauer, Caroline Theile, Joshua W Owens, et al.Brain and Behavior|February 6, 2025
A Dual Diagnosis of Okur-Chung Neurodevelopmental Syndrome and Becker Muscular Dystrophy: Inquiry Into the Lower Limits of Neurodevelopmental Functioning Attributable to Muscular DystrophyVictoria Liu, Eva Hanson, Joshua W Owens, et al.Case Reports in Genetics|April 10, 2025
Dual Diagnosis of Fragile X Syndrome and DEPDC5-Related Disorder Emphasizes DEPDC5's Role Beyond Familial Epilepsy: A Case Report and Literature ReviewRory Edwards, Grace Murphy, Joshua W Owens, et al.Annals of Human Genetics|November 3, 2023
Phenotypic variability in Joubert syndrome is partially explained by ciliary pathophysiologyJoshua W Owens, Robert J Hopkin, Lisa J Martin, et al.Clinical Case Reports|May 5, 2025
The phenotypic spectrum of the Cornelia de Lange-like "Alazami-Yuan syndrome": A case report of the 7th diagnosed individual and review of the literatureAnnie Pappas, Mary Mooney, Katherine Kohnen, et al.American Journal of Medical Genetics. Part A|January 22, 2025
A Case Study of a Female Infant With Primary Hypertrophic Osteoarthropathy Demonstrates That Early Initiation of Celecoxib Slows but Does Not Prevent Symptom ProgressionKara Zehr, Morgan Buckley, Joshua W Owens, et al.Journal of Medical Genetics|May 15, 2023
ARF1-related disorder: phenotypic and molecular spectrumJean-Madeleine de Sainte Agathe, Ben Pode-Shakked, Sophie Naudion, et al.Pageof 1