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Anne De Paepe

Showing results (41-50 of 236) with videos related to

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Plos One|May 26, 2011
A novel splice variant in the N-propeptide of COL5A1 causes an EDS phenotype with severe kyphoscoliosis and eye involvementSofie Symoens, Fransiska Malfait, Philip Vlummens, et al.
Polskie Archiwum Medycyny Wewnetrznej|December 18, 2013
New insights into the molecular diagnosis and management of heritable thoracic aortic aneurysms and dissectionsLaurence Campens, Marjolijn Renard, Bert Callewaert, et al.
Cancer Letters|November 23, 2013
Pharmacologic activation of wild-type p53 by nutlin therapy in childhood cancerTom Van Maerken, Ali Rihani, Alan Van Goethem, et al.
Frontiers in Genetics|June 14, 2013
Zebrafish models for ectopic mineralization disorders: practical issues from morpholino design to post-injection observationsMohammad Jakir Hosen, Olivier M Vanakker, Andy Willaert, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 18, 2006
A critical analysis of minor cardiovascular criteria in the diagnostic evaluation of patients with Marfan syndromeJulie De Backer, Bart Loeys, Dan Devos, et al.
European Radiology|May 20, 2014
Imaging findings in a distinct lethal inherited arteriopathy syndrome associated with a novel mutation in the FBLN4 geneRamiah Rajeshkannan, Chinmay kulkarni, Mahesh Kappanayil, et al.
European Journal of Human Genetics : EJHG|July 30, 2015
Attitudes of cystic fibrosis patients and parents toward carrier screening and related reproductive issuesSandra Janssens, Davit Chokoshvilli, Carmen Binst, et al.
Oncogene|May 31, 2002
Pathological splice mutations outside the invariant AG/GT splice sites of BRCA1 exon 5 increase alternative transcript levels in the 5' end of the BRCA1 geneKathleen Claes, Jo Vandesompele, Bruce Poppe, et al.
Genes, Chromosomes & Cancer|May 22, 2003
Differentiating pathogenic mutations from polymorphic alterations in the splice sites of BRCA1 and BRCA2Kathleen Claes, Bruce Poppe, Eva Machackova, et al.
Plos One|July 26, 2014
Molecular docking simulations provide insights in the substrate binding sites and possible substrates of the ABCC6 transporterMohammad Jakir Hosen, Abdullah Zubaer, Simrika Thapa, et al.
Pageof 24

Showing results (41-50 of 236) with videos related to

Sort By:
Pageof 24
Plos One|May 26, 2011
A novel splice variant in the N-propeptide of COL5A1 causes an EDS phenotype with severe kyphoscoliosis and eye involvementSofie Symoens, Fransiska Malfait, Philip Vlummens, et al.
Polskie Archiwum Medycyny Wewnetrznej|December 18, 2013
New insights into the molecular diagnosis and management of heritable thoracic aortic aneurysms and dissectionsLaurence Campens, Marjolijn Renard, Bert Callewaert, et al.
Cancer Letters|November 23, 2013
Pharmacologic activation of wild-type p53 by nutlin therapy in childhood cancerTom Van Maerken, Ali Rihani, Alan Van Goethem, et al.
Frontiers in Genetics|June 14, 2013
Zebrafish models for ectopic mineralization disorders: practical issues from morpholino design to post-injection observationsMohammad Jakir Hosen, Olivier M Vanakker, Andy Willaert, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 18, 2006
A critical analysis of minor cardiovascular criteria in the diagnostic evaluation of patients with Marfan syndromeJulie De Backer, Bart Loeys, Dan Devos, et al.
European Radiology|May 20, 2014
Imaging findings in a distinct lethal inherited arteriopathy syndrome associated with a novel mutation in the FBLN4 geneRamiah Rajeshkannan, Chinmay kulkarni, Mahesh Kappanayil, et al.
European Journal of Human Genetics : EJHG|July 30, 2015
Attitudes of cystic fibrosis patients and parents toward carrier screening and related reproductive issuesSandra Janssens, Davit Chokoshvilli, Carmen Binst, et al.
Oncogene|May 31, 2002
Pathological splice mutations outside the invariant AG/GT splice sites of BRCA1 exon 5 increase alternative transcript levels in the 5' end of the BRCA1 geneKathleen Claes, Jo Vandesompele, Bruce Poppe, et al.
Genes, Chromosomes & Cancer|May 22, 2003
Differentiating pathogenic mutations from polymorphic alterations in the splice sites of BRCA1 and BRCA2Kathleen Claes, Bruce Poppe, Eva Machackova, et al.
Plos One|July 26, 2014
Molecular docking simulations provide insights in the substrate binding sites and possible substrates of the ABCC6 transporterMohammad Jakir Hosen, Abdullah Zubaer, Simrika Thapa, et al.
Pageof 24