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JIMD Reports|November 26, 2013
Newborn screening for hunter disease: a small-scale feasibility studyG J G Ruijter, D A Goudriaan, A M Boer, et al.
Neuromuscular Disorders : NMD|December 24, 2016
Ephedrine treatment for autoimmune myasthenia gravisAlexander F Lipka, Charlotte Vrinten, Erik W van Zwet, et al.
Pediatric Nephrology (Berlin, Germany)|November 12, 2025
Changes in maintenance immunosuppression after pediatric kidney transplantation-a report from the Nordic pediatric kidney transplantation registryHenna Kaijansinkko, Juuso Tainio, Anna Bjerre, et al.
European Journal of Human Genetics : EJHG|April 17, 2014
A decade of molecular genetic testing for MODY: a retrospective study of utilization in The NetherlandsStephanie S Weinreich, Astrid Bosma, Lidewij Henneman, et al.
Neurology|August 15, 2014
Population-based incidence and prevalence of facioscapulohumeral dystrophyJohanna C W Deenen, Hisse Arnts, Silvère M van der Maarel, et al.
Orphanet Journal of Rare Diseases|May 13, 2017
Aggregated N-of-1 trials for unlicensed medicines for small populations: an assessment of a trial with ephedrine for myasthenia gravisStephanie S Weinreich, Charlotte Vrinten, Marja R Kuijpers, et al.
Molecular Genetics and Metabolism|October 9, 2012
Severely impaired health status at diagnosis of Pompe disease: a cross-sectional analysis to explore the potential utility of neonatal screeningTessel Rigter, Stephanie S Weinreich, Carla G van El, et al.
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