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Martijn H Breuning

Showing results (11-20 of 112) with videos related to

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Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|October 11, 2003
No effect of enalapril on progression in autosomal dominant polycystic kidney diseaseMarjan A van Dijk, Martijn H Breuning, Rik Duiser, et al.
Human Mutation|December 26, 2003
Large deletions in the polycystic kidney disease 1 (PKD1) geneYavuz Ariyurek, Irma Lantinga-van Leeuwen, Lia Spruit, et al.
European Journal of Human Genetics : EJHG|December 9, 2004
Mutation screening of EXT1 and EXT2 by direct sequence analysis and MLPA in patients with multiple osteochondromas: splice site mutations and exonic deletions account for more than half of the mutationsGeraldine R Vink, Stefan J White, Strelicija Gabelic, et al.
Neuromuscular Disorders : NMD|May 5, 2009
Rapid and cost effective detection of small mutations in the DMD gene by high resolution melting curve analysisRowida Almomani, Nienke van der Stoep, Egbert Bakker, et al.
Fertility and Sterility|June 14, 2006
An XX male with the sex-determining region Y gene inserted in the long arm of chromosome 16Johannnes G Dauwerse, Kerstin B M Hansson, Ad A M Brouwers, et al.
BMC Biotechnology|February 27, 2008
Quantification of Cre-mediated recombination by a novel strategy reveals a stable extra-chromosomal deletion-circle in miceWouter N Leonhard, Jeroen H Roelfsema, Irma S Lantinga-van Leeuwen, et al.
American Journal of Medical Genetics|September 5, 2002
Another family with nonspecific X-linked mental retardation (MRX78) maps to Xp11.4-p11.23Bert B A de Vries, Guido J Breedveld, Wouter H Deelen, et al.
Human Mutation|June 15, 2005
Sarcoglycanopathies and the risk of undetected deletion alleles in diagnosisStefan J White, Shirley Uitte de Willige, Dennis Verbove, et al.
Nederlands Tijdschrift Voor Geneeskunde|June 4, 2009
[Autosomal dominant polycystic kidney disease: new insights and possible drugs]Esther Meijer, Paul E de Jong, Eric J van der Jagt, et al.
Genetic Testing|February 25, 2005
Variants of uncertain clinical significance as a result of BRCA1/2 testing: impact of an ambiguous breast cancer risk messageSandra van Dijk, Christi J van Asperen, Catharina E Jacobi, et al.
Pageof 12

Showing results (11-20 of 112) with videos related to

Sort By:
Pageof 12
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|October 11, 2003
No effect of enalapril on progression in autosomal dominant polycystic kidney diseaseMarjan A van Dijk, Martijn H Breuning, Rik Duiser, et al.
Human Mutation|December 26, 2003
Large deletions in the polycystic kidney disease 1 (PKD1) geneYavuz Ariyurek, Irma Lantinga-van Leeuwen, Lia Spruit, et al.
European Journal of Human Genetics : EJHG|December 9, 2004
Mutation screening of EXT1 and EXT2 by direct sequence analysis and MLPA in patients with multiple osteochondromas: splice site mutations and exonic deletions account for more than half of the mutationsGeraldine R Vink, Stefan J White, Strelicija Gabelic, et al.
Neuromuscular Disorders : NMD|May 5, 2009
Rapid and cost effective detection of small mutations in the DMD gene by high resolution melting curve analysisRowida Almomani, Nienke van der Stoep, Egbert Bakker, et al.
Fertility and Sterility|June 14, 2006
An XX male with the sex-determining region Y gene inserted in the long arm of chromosome 16Johannnes G Dauwerse, Kerstin B M Hansson, Ad A M Brouwers, et al.
BMC Biotechnology|February 27, 2008
Quantification of Cre-mediated recombination by a novel strategy reveals a stable extra-chromosomal deletion-circle in miceWouter N Leonhard, Jeroen H Roelfsema, Irma S Lantinga-van Leeuwen, et al.
American Journal of Medical Genetics|September 5, 2002
Another family with nonspecific X-linked mental retardation (MRX78) maps to Xp11.4-p11.23Bert B A de Vries, Guido J Breedveld, Wouter H Deelen, et al.
Human Mutation|June 15, 2005
Sarcoglycanopathies and the risk of undetected deletion alleles in diagnosisStefan J White, Shirley Uitte de Willige, Dennis Verbove, et al.
Nederlands Tijdschrift Voor Geneeskunde|June 4, 2009
[Autosomal dominant polycystic kidney disease: new insights and possible drugs]Esther Meijer, Paul E de Jong, Eric J van der Jagt, et al.
Genetic Testing|February 25, 2005
Variants of uncertain clinical significance as a result of BRCA1/2 testing: impact of an ambiguous breast cancer risk messageSandra van Dijk, Christi J van Asperen, Catharina E Jacobi, et al.
Pageof 12