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M Elleder

Showing results (171-180 of 191) with videos related to

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European Journal of Histochemistry : EJH|June 19, 2010
Histochemical detection of GM1 ganglioside using cholera toxin-B subunit. Evaluation of critical factors optimal for in situ detection with special emphasis to acetone pre-extractionT Petr, V Smíd, J Smídová, et al.
Pediatric Research|November 1, 1985
Prenatal diagnosis of GM2 gangliosidosis with high residual hexosaminidase A activity (variant B1; pseudo AB variant)E Conzelmann, H Nehrkorn, H J Kytzia, et al.
Virchows Archiv. A, Pathological Anatomy and Histopathology|January 1, 1990
Cardiocyte storage and hypertrophy as a sole manifestation of Fabry's disease. Report on a case simulating hypertrophic non-obstructive cardiomyopathyM Elleder, V Bradová, F Smíd, et al.
Human Molecular Genetics|August 1, 2000
Link between a novel human gammaD-crystallin allele and a unique cataract phenotype explained by protein crystallographyS Kmoch, J Brynda, B Asfaw, et al.
American Journal of Human Genetics|September 22, 2001
Niemann-Pick disease type C: spectrum of HE1 mutations and genotype/phenotype correlations in the NPC2 groupG Millat, K Chikh, S Naureckiene, et al.
Casopis Lekaru Ceskych|November 24, 1999
[Various manifestations of the A8344G mtDNA heteroplasmic mutation in 4 families with the MERRF syndrome]L Stratilová, J Zeman, H Houst'ková, et al.
Journal of Inherited Metabolic Disease|November 11, 2008
Intravascular ultrasound assessment of coronary artery involvement in Fabry diseaseT Kovarnik, G S Mintz, D Karetova, et al.
Molecular Genetics and Metabolism|August 3, 2010
Oligodendroglia from ADSL-deficient patient produce SAICAribotide and SAMPL Zídková, J Krijt, J Sládková, et al.
American Heart Journal|May 29, 2000
New insights in cardiac structural changes in patients with Fabry's diseaseA Linhart, T Palecek, J Bultas, et al.
Neuropediatrics|June 10, 2005
Prosaposin deficiency -- a rarely diagnosed, rapidly progressing, neonatal neurovisceral lipid storage disease. Report of a further patientM Elleder, M Jerábková, A Befekadu, et al.
Pageof 20

Showing results (171-180 of 191) with videos related to

Sort By:
Pageof 20
European Journal of Histochemistry : EJH|June 19, 2010
Histochemical detection of GM1 ganglioside using cholera toxin-B subunit. Evaluation of critical factors optimal for in situ detection with special emphasis to acetone pre-extractionT Petr, V Smíd, J Smídová, et al.
Pediatric Research|November 1, 1985
Prenatal diagnosis of GM2 gangliosidosis with high residual hexosaminidase A activity (variant B1; pseudo AB variant)E Conzelmann, H Nehrkorn, H J Kytzia, et al.
Virchows Archiv. A, Pathological Anatomy and Histopathology|January 1, 1990
Cardiocyte storage and hypertrophy as a sole manifestation of Fabry's disease. Report on a case simulating hypertrophic non-obstructive cardiomyopathyM Elleder, V Bradová, F Smíd, et al.
Human Molecular Genetics|August 1, 2000
Link between a novel human gammaD-crystallin allele and a unique cataract phenotype explained by protein crystallographyS Kmoch, J Brynda, B Asfaw, et al.
American Journal of Human Genetics|September 22, 2001
Niemann-Pick disease type C: spectrum of HE1 mutations and genotype/phenotype correlations in the NPC2 groupG Millat, K Chikh, S Naureckiene, et al.
Casopis Lekaru Ceskych|November 24, 1999
[Various manifestations of the A8344G mtDNA heteroplasmic mutation in 4 families with the MERRF syndrome]L Stratilová, J Zeman, H Houst'ková, et al.
Journal of Inherited Metabolic Disease|November 11, 2008
Intravascular ultrasound assessment of coronary artery involvement in Fabry diseaseT Kovarnik, G S Mintz, D Karetova, et al.
Molecular Genetics and Metabolism|August 3, 2010
Oligodendroglia from ADSL-deficient patient produce SAICAribotide and SAMPL Zídková, J Krijt, J Sládková, et al.
American Heart Journal|May 29, 2000
New insights in cardiac structural changes in patients with Fabry's diseaseA Linhart, T Palecek, J Bultas, et al.
Neuropediatrics|June 10, 2005
Prosaposin deficiency -- a rarely diagnosed, rapidly progressing, neonatal neurovisceral lipid storage disease. Report of a further patientM Elleder, M Jerábková, A Befekadu, et al.
Pageof 20