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Journal of Neuropathology and Experimental Neurology|December 18, 2012
More than hypomyelination in Pol-III disorderAdeline Vanderver, Davide Tonduti, Genevieve Bernard, et al.
European Journal of Human Genetics : EJHG|April 1, 2004
Decreased guanine nucleotide exchange factor activity in eIF2B-mutated patientsAnne Fogli, Raphael Schiffmann, Lynne Hugendubler, et al.
Human Genetics|July 26, 2005
Heightened stress response in primary fibroblasts expressing mutant eIF2B genes from CACH/VWM leukodystrophy patientsLiraz Kantor, Heather P Harding, David Ron, et al.
The Journal of Pediatrics|June 24, 2008
Cognitive outcome in treated patients with chronic neuronopathic Gaucher diseaseOzlem Goker-Alpan, Edythe A Wiggs, Michael J Eblan, et al.
Journal of Inherited Metabolic Disease|September 14, 2017
Critical appraisal of genotype assessment in molybdenum cofactor deficiencyKatrin Hinderhofer, Konstantin Mechler, Georg F Hoffmann, et al.
Scientific Reports|January 3, 2025
Perennial disaster patterns in Central Europe since 2000 and implications for hospital preparedness planning - a cross-sectional analysisMaik von der Forst, Maximilian Dietrich, Felix C F Schmitt, et al.
Pediatric Transplantation|March 7, 2022
Publication rate and research topics of studies in pediatric kidney transplantationChristian Patry, Stefanie Cordts, Lukas Baumann, et al.
Scientific Reports|September 15, 2022
Orphan drug development in alpha-1 antitypsin deficiencyFranziska C Trudzinski, Maria Ada Presotto, Emanuel Buck, et al.
BMC Women'S Health|October 28, 2004
Screening for known mutations in EIF2B genes in a large panel of patients with premature ovarian failureAnne Fogli, Fernande Gauthier-Barichard, Raphael Schiffmann, et al.
Orphanet Journal of Rare Diseases|April 11, 2025
Gaucher disease type 3 from infancy through adulthood: a conceptual model of signs, symptoms, and impacts associated with ataxia and cognitive impairmentRaphael Schiffmann, James Turnbull, Robert Krupnick, et al.
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