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American Journal of Medical Genetics. Part A|November 26, 2022
Further expansion and confirmation of phenotype in rare loss of YWHAE gene distinct from Miller-Dieker syndromeElizabeth K Baker, Casey J Brewer, Leonardo Ferreira, et al.JIMD Reports|May 17, 2017
Improvement of Fabry Disease-Related Gastrointestinal Symptoms in a Significant Proportion of Female Patients Treated with Agalsidase Beta: Data from the Fabry RegistryWilliam R Wilcox, Ulla Feldt-Rasmussen, Ana Maria Martins, et al.Molecular Genetics and Metabolism|August 12, 2016
Risk factors for severe clinical events in male and female patients with Fabry disease treated with agalsidase beta enzyme replacement therapy: Data from the Fabry RegistryRobert J Hopkin, Gustavo Cabrera, Joel Charrow, et al.Rheumatology (Oxford, England)|March 20, 2010
Common and recurrent HPGD mutations in Caucasian individuals with primary hypertrophic osteoarthropathyChristine P Diggle, Ian M Carr, Emanuel Zitt, et al.JIMD Reports|January 9, 2015
Cognitive function in adults aging with fabry disease: a case-control feasibility study using telephone-based assessmentsVirginia G Wadley, Leslie A McClure, David G Warnock, et al.Molecular Genetics and Metabolism|June 26, 2012
Recurrent pancreatitis in ornithine transcarbamylase deficiencyCarlos E Prada, Ajay Kaul, Robert J Hopkin, et al.Orphanet Journal of Rare Diseases|July 10, 2024
A rare partnership: patient community and industry collaboration to shape the impact of real-world evidence on the rare disease ecosystemT L Klein, J Bender, S Bolton, et al.American Journal of Medical Genetics. Part A|March 27, 2013
Fractures in children with neurofibromatosis type 1 from two NF clinicsJaya K George-Abraham, Lisa J Martin, Heidi J Kalkwarf, et al.American Journal of Medical Genetics. Part A|January 25, 2014
Keutel syndrome: report of two novel MGP mutations and discussion of clinical overlap with arylsulfatase E deficiency and relapsing polychondritisK Nicole Weaver, Moussa El Hallek, Robert J Hopkin, et al.Journal of Autism and Developmental Disorders|November 21, 2007
Brief report: autistic symptoms, developmental regression, mental retardation, epilepsy, and dyskinesias in CNS folate deficiencyPaolo Moretti, Sarika U Peters, Daniela Del Gaudio, et al.Pageof 20