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L P W J van den Heuvel

Showing results (1-10 of 14) with videos related to

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Mitochondrion|August 27, 2005
The human complex I NDUFS4 subunit: from gene structure to function and pathologyS M S Budde, L P W J van den Heuvel, J A M Smeitink
Nederlands Tijdschrift Voor Geneeskunde|February 10, 2007
[From gene to disease; the haemolytic uraemic syndrome can be caused by mutations in regulating factors of the alternative route of the complement system]J M Geelen, I S Klasen, L P W J van den Heuvel, et al.
Clinical Nephrology|March 1, 2003
WT-1 and NPHS2 mutation analysis in patients with non-familial steroid-resistant focal-segmental glomerulosclerosisM M Löwik, E N Levtchenko, L A H Monnens, et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|December 9, 2004
Mitochondrial tRNALeu(UUR) mutation in a patient with steroid-resistant nephrotic syndrome and focal segmental glomerulosclerosisM M Löwik, F A Hol, E J Steenbergen, et al.
Methods in Molecular Biology (Clifton, N.J.)|April 13, 2021
Functional Hemolytic Test for Complement Alternative Pathway Convertase ActivityMarloes A H M Michels, Nicole C A J van de Kar, Elena B Volokhina, et al.
Neuropediatrics|September 16, 2003
Nijmegen breakage syndrome: a neuropathological studyM Lammens, J A P Hiel, F J M Gabreëls, et al.
Nederlands Tijdschrift Voor Geneeskunde|August 24, 2005
[A genetic childhood disease with consequences in adult life: the Denys-Drash syndrome]M M Löwik, F W P J van den Berkmortel, C Noordam, et al.
Molecular Genetics and Metabolism|June 2, 2026
Prevalence and clinical impact of gastrointestinal symptoms in patients with cystinosisA de Vreugd, M L van Campen, E A M Cornelissen, et al.
Journal of Inherited Metabolic Disease|February 10, 2004
Clinical heterogeneity in patients with mutations in the NDUFS4 gene of mitochondrial complex IS M S Budde, L P W J van den Heuvel, R J P Smeets, et al.
International Journal of Hematology|August 13, 2015
Adult-onset congenital thrombotic thrombocytopenic purpura caused by a novel compound heterozygous mutation of the ADAMTS13 geneJohannes G Krabbe, Evelien W M Kemna, Annuska L M Strunk, et al.
Pageof 2

Showing results (1-10 of 14) with videos related to

Sort By:
Pageof 2
Mitochondrion|August 27, 2005
The human complex I NDUFS4 subunit: from gene structure to function and pathologyS M S Budde, L P W J van den Heuvel, J A M Smeitink
Nederlands Tijdschrift Voor Geneeskunde|February 10, 2007
[From gene to disease; the haemolytic uraemic syndrome can be caused by mutations in regulating factors of the alternative route of the complement system]J M Geelen, I S Klasen, L P W J van den Heuvel, et al.
Clinical Nephrology|March 1, 2003
WT-1 and NPHS2 mutation analysis in patients with non-familial steroid-resistant focal-segmental glomerulosclerosisM M Löwik, E N Levtchenko, L A H Monnens, et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|December 9, 2004
Mitochondrial tRNALeu(UUR) mutation in a patient with steroid-resistant nephrotic syndrome and focal segmental glomerulosclerosisM M Löwik, F A Hol, E J Steenbergen, et al.
Methods in Molecular Biology (Clifton, N.J.)|April 13, 2021
Functional Hemolytic Test for Complement Alternative Pathway Convertase ActivityMarloes A H M Michels, Nicole C A J van de Kar, Elena B Volokhina, et al.
Neuropediatrics|September 16, 2003
Nijmegen breakage syndrome: a neuropathological studyM Lammens, J A P Hiel, F J M Gabreëls, et al.
Nederlands Tijdschrift Voor Geneeskunde|August 24, 2005
[A genetic childhood disease with consequences in adult life: the Denys-Drash syndrome]M M Löwik, F W P J van den Berkmortel, C Noordam, et al.
Molecular Genetics and Metabolism|June 2, 2026
Prevalence and clinical impact of gastrointestinal symptoms in patients with cystinosisA de Vreugd, M L van Campen, E A M Cornelissen, et al.
Journal of Inherited Metabolic Disease|February 10, 2004
Clinical heterogeneity in patients with mutations in the NDUFS4 gene of mitochondrial complex IS M S Budde, L P W J van den Heuvel, R J P Smeets, et al.
International Journal of Hematology|August 13, 2015
Adult-onset congenital thrombotic thrombocytopenic purpura caused by a novel compound heterozygous mutation of the ADAMTS13 geneJohannes G Krabbe, Evelien W M Kemna, Annuska L M Strunk, et al.
Pageof 2