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The Lancet. Neurology|July 17, 2019
Diagnosis, prognosis, and treatment of leukodystrophiesMarjo S van der Knaap, Raphael Schiffmann, Fanny Mochel, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 20, 2016
Is it Fabry disease?Raphael Schiffmann, Maria Fuller, Lorne A Clarke, et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|October 6, 2005
Long-term therapy with agalsidase alfa for Fabry disease: safety and effects on renal function in a home infusion settingRaphael Schiffmann, Markus Ries, Margaret Timmons, et al.
Journal of Child Neurology|August 28, 2003
Diffuse neuroaxonal involvement in mucolipidosis IV as assessed by proton magnetic resonance spectroscopic imagingSimona Bonavita, Anette Virta, Neal Jeffries, et al.
International Journal of Mass Spectrometry|March 13, 2012
Characterization of Transferrin Glycopeptide Structures in Human Cerebrospinal FluidKristy J Brown, Adeline Vanderver, Eric P Hoffman, et al.
Journal of Magnetic Resonance Imaging : JMRI|October 12, 2013
Cerebral arterial and venous blood flow in adolescent multiple sclerosis patients and age-matched controls using phase contrast MRIChristopher K Macgowan, Katherine Y Chan, Suzanne Laughlin, et al.
American Journal of Medical Genetics. Part A|December 21, 2013
Mosaic microdeletion of 17p11.2-p12 and duplication of 17q22-q24 in a girl with Smith-Magenis phenotype and peripheral neuropathyElaine Suk-Ying Goh, Brenda Banwell, Dimitri James Stavropoulos, et al.
Journal of Population Therapeutics and Clinical Pharmacology = Journal De La Therapeutique Des Populations Et De La Pharmacologie Clinique|July 29, 2010
Oral dosing requirements for phenytoin in the first three months of lifeAnita Cheng, Brenda Banwell, Simon Levin, et al.
The Lancet. Neurology|August 22, 2014
Multiple sclerosis in children: an update on clinical diagnosis, therapeutic strategies, and researchAmy Waldman, Angelo Ghezzi, Amit Bar-Or, et al.
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