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A Wevers

Showing results (351-360 of 543) with videos related to

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Molecular Genetics and Metabolism|December 4, 2014
Cerebral lipid accumulation in Chanarin-Dorfman SyndromeMarleen C D G Huigen, Marinette van der Graaf, Eva Morava, et al.
The Netherlands Journal of Medicine|April 9, 2015
Hypercholesterolaemia and hepatosplenomegaly: two manifestations of cholesteryl ester storage diseaseB Sjouke, J W J van der Stappen, J E M Groener, et al.
Annals of Neurology|August 2, 2003
Tyrosine hydroxylase deficiency causes progressive encephalopathy and dopa-nonresponsive dystoniaGeorg F Hoffmann, Birgit Assmann, Christa Bräutigam, et al.
American Journal of Medical Genetics. Part A|September 13, 2011
Creatine transporter defect diagnosed by proton NMR spectroscopy in males with intellectual disabilityMaria Antonietta Mencarelli, Maria Tassini, Marzia Pollazzon, et al.
The Journal of Pediatrics|September 17, 2011
B4GALT1-congenital disorders of glycosylation presents as a non-neurologic glycosylation disorder with hepatointestinal involvementMaïlys Guillard, Eva Morava, Jorg de Ruijter, et al.
Metabolism: Clinical and Experimental|February 19, 1999
Effect of simvastatin in addition to chenodeoxycholic acid in patients with cerebrotendinous xanthomatosisA Verrips, R A Wevers, B G Van Engelen, et al.
Journal of Inherited Metabolic Disease|February 10, 2018
Targeted versus untargeted omics - the CAFSA storyMaria Del Mar Amador, Benoit Colsch, Foudil Lamari, et al.
Brain Research. Developmental Brain Research|December 18, 2001
Expression of the alpha4 isoform of the nicotinic acetylcholine receptor in the fetal human cerebral cortexH Schröder, U Schütz, L Burghaus, et al.
Journal of Inherited Metabolic Disease|July 17, 1999
A review of biochemical and molecular genetic aspects of tyrosine hydroxylase deficiency including a novel mutation (291delC)R A Wevers, J F de Rijk-van Andel, C Bräutigam, et al.
American Journal of Human Genetics|July 31, 1998
Smith-Lemli-Opitz syndrome is caused by mutations in the 7-dehydrocholesterol reductase geneH R Waterham, F A Wijburg, R C Hennekam, et al.
Pageof 55

Showing results (351-360 of 543) with videos related to

Sort By:
Pageof 55
Molecular Genetics and Metabolism|December 4, 2014
Cerebral lipid accumulation in Chanarin-Dorfman SyndromeMarleen C D G Huigen, Marinette van der Graaf, Eva Morava, et al.
The Netherlands Journal of Medicine|April 9, 2015
Hypercholesterolaemia and hepatosplenomegaly: two manifestations of cholesteryl ester storage diseaseB Sjouke, J W J van der Stappen, J E M Groener, et al.
Annals of Neurology|August 2, 2003
Tyrosine hydroxylase deficiency causes progressive encephalopathy and dopa-nonresponsive dystoniaGeorg F Hoffmann, Birgit Assmann, Christa Bräutigam, et al.
American Journal of Medical Genetics. Part A|September 13, 2011
Creatine transporter defect diagnosed by proton NMR spectroscopy in males with intellectual disabilityMaria Antonietta Mencarelli, Maria Tassini, Marzia Pollazzon, et al.
The Journal of Pediatrics|September 17, 2011
B4GALT1-congenital disorders of glycosylation presents as a non-neurologic glycosylation disorder with hepatointestinal involvementMaïlys Guillard, Eva Morava, Jorg de Ruijter, et al.
Metabolism: Clinical and Experimental|February 19, 1999
Effect of simvastatin in addition to chenodeoxycholic acid in patients with cerebrotendinous xanthomatosisA Verrips, R A Wevers, B G Van Engelen, et al.
Journal of Inherited Metabolic Disease|February 10, 2018
Targeted versus untargeted omics - the CAFSA storyMaria Del Mar Amador, Benoit Colsch, Foudil Lamari, et al.
Brain Research. Developmental Brain Research|December 18, 2001
Expression of the alpha4 isoform of the nicotinic acetylcholine receptor in the fetal human cerebral cortexH Schröder, U Schütz, L Burghaus, et al.
Journal of Inherited Metabolic Disease|July 17, 1999
A review of biochemical and molecular genetic aspects of tyrosine hydroxylase deficiency including a novel mutation (291delC)R A Wevers, J F de Rijk-van Andel, C Bräutigam, et al.
American Journal of Human Genetics|July 31, 1998
Smith-Lemli-Opitz syndrome is caused by mutations in the 7-dehydrocholesterol reductase geneH R Waterham, F A Wijburg, R C Hennekam, et al.
Pageof 55