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Journal of Applied Genetics|October 20, 2019
Mild Zellweger syndrome due to functionally confirmed novel PEX1 variantsPatryk Lipiński, Piotr Stawiński, Małgorzata Rydzanicz, et al.Molecular Genetics and Metabolism|February 24, 2020
Biochemical and imaging parameters in acid sphingomyelinase deficiency: Potential utility as biomarkersEline C B Eskes, Barbara Sjouke, Frédéric M Vaz, et al.Molecular Genetics and Metabolism|January 26, 2024
PCYT2 deficiency in Saarlooswolfdogs with progressive retinal, central, and peripheral neurodegenerationMatthias Christen, Anna Oevermann, Stefan Rupp, et al.Molecular Metabolism|April 10, 2020
Skeletal muscle in healthy humans exhibits a day-night rhythm in lipid metabolismNtsiki M Held, Jakob Wefers, Michel van Weeghel, et al.Parasite Immunology|March 11, 2014
B-cell epitopes of antigenic proteins in Leishmania infantum: an in silico analysisL M Assis, J R Sousa, N F S Pinto, et al.Orphanet Journal of Rare Diseases|February 16, 2013
New clinical and molecular insights on Barth syndromeLorenzo Ferri, Maria Alice Donati, Silvia Funghini, et al.Journal of Hypertension|August 31, 1999
Neural mechanisms in human obesity-related hypertensionM S Rumantir, M Vaz, G L Jennings, et al.Journal of the Autonomic Nervous System|May 12, 1997
Cerebral noradrenaline spillover and its relation to muscle sympathetic nervous activity in healthy human subjectsG W Lambert, J M Thompson, A G Turner, et al.Clinical Chemistry|May 25, 2002
Analysis of carnitine biosynthesis metabolites in urine by HPLC-electrospray tandem mass spectrometryFrédéric M Vaz, Bela Melegh, Judit Bene, et al.Human Genetics|September 10, 1999
Identification of two novel mutations in OCTN2 of three patients with systemic carnitine deficiencyF M Vaz, H R Scholte, J Ruiter, et al.Pageof 55