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Brage Storstein Andresen

Showing results (1-10 of 28) with videos related to

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Molecular Genetics and Metabolism|July 2, 2013
A synonymous polymorphic variation in ACADM exon 11 affects splicing efficiency and may affect fatty acid oxidationGitte Hoffmann Bruun, Thomas Koed Doktor, Brage Storstein Andresen
Molecular Genetics and Metabolism|June 16, 2012
Splicing of phenylalanine hydroxylase (PAH) exon 11 is vulnerable: molecular pathology of mutations in PAH exon 11Caroline Heintz, Steven F Dobrowolski, Henriette Skovgaard Andersen, et al.
Scientific Reports|February 23, 2012
CUGBP1 and MBNL1 preferentially bind to 3' UTRs and facilitate mRNA decayAkio Masuda, Henriette Skovgaard Andersen, Thomas Koed Doktor, et al.
Molecular Genetics and Metabolism|September 6, 2016
The prevalent deep intronic c. 639+919 G>A GLA mutation causes pseudoexon activation and Fabry disease by abolishing the binding of hnRNPA1 and hnRNP A2/B1 to a splicing silencerBruno Palhais, Maja Dembic, Rugivan Sabaratnam, et al.
Journal of Inherited Metabolic Disease|May 19, 2010
High-resolution melting analysis, a simple and effective method for reliable mutation scanning and frequency studies in the ACADVL geneRikke Katrine Jentoft Olsen, Steven F Dobrowolski, Margrethe Kjeldsen, et al.
Human Mutation|December 2, 2010
SMN2 exon 7 splicing is inhibited by binding of hnRNP A1 to a common ESS motif that spans the 3' splice siteThomas Koed Doktor, Lisbeth Dahl Schroeder, Anne Vested, et al.
JIMD Reports|April 3, 2013
A Large Intragenic Deletion in the ACADM Gene Can Cause MCAD Deficiency but is not Detected on Routine SequencingClaire Searle, Brage Storstein Andresen, Ed Wraith, et al.
Plos One|June 4, 2014
Absence of an intron splicing silencer in porcine Smn1 intron 7 confers immunity to the exon skipping mutation in human SMN2Thomas Koed Doktor, Lisbeth Dahl Schrøder, Henriette Skovgaard Andersen, et al.
Plos One|September 24, 2013
Identification of six novel PTH1R mutations in families with a history of primary failure of tooth eruptionLotte Risom, Line Christoffersen, Jette Daugaard-Jensen, et al.
American Journal of Medical Genetics. Part A|May 15, 2008
Interstitial deletion of 1p22.2p31.1 and medium-chain acyl-CoA dehydrogenase deficiency in a patient with global developmental delayGustavo H B Maegawa, Nicola K Poplawski, Brage Storstein Andresen, et al.
Pageof 3

Showing results (1-10 of 28) with videos related to

Sort By:
Pageof 3
Molecular Genetics and Metabolism|July 2, 2013
A synonymous polymorphic variation in ACADM exon 11 affects splicing efficiency and may affect fatty acid oxidationGitte Hoffmann Bruun, Thomas Koed Doktor, Brage Storstein Andresen
Molecular Genetics and Metabolism|June 16, 2012
Splicing of phenylalanine hydroxylase (PAH) exon 11 is vulnerable: molecular pathology of mutations in PAH exon 11Caroline Heintz, Steven F Dobrowolski, Henriette Skovgaard Andersen, et al.
Scientific Reports|February 23, 2012
CUGBP1 and MBNL1 preferentially bind to 3' UTRs and facilitate mRNA decayAkio Masuda, Henriette Skovgaard Andersen, Thomas Koed Doktor, et al.
Molecular Genetics and Metabolism|September 6, 2016
The prevalent deep intronic c. 639+919 G>A GLA mutation causes pseudoexon activation and Fabry disease by abolishing the binding of hnRNPA1 and hnRNP A2/B1 to a splicing silencerBruno Palhais, Maja Dembic, Rugivan Sabaratnam, et al.
Journal of Inherited Metabolic Disease|May 19, 2010
High-resolution melting analysis, a simple and effective method for reliable mutation scanning and frequency studies in the ACADVL geneRikke Katrine Jentoft Olsen, Steven F Dobrowolski, Margrethe Kjeldsen, et al.
Human Mutation|December 2, 2010
SMN2 exon 7 splicing is inhibited by binding of hnRNP A1 to a common ESS motif that spans the 3' splice siteThomas Koed Doktor, Lisbeth Dahl Schroeder, Anne Vested, et al.
JIMD Reports|April 3, 2013
A Large Intragenic Deletion in the ACADM Gene Can Cause MCAD Deficiency but is not Detected on Routine SequencingClaire Searle, Brage Storstein Andresen, Ed Wraith, et al.
Plos One|June 4, 2014
Absence of an intron splicing silencer in porcine Smn1 intron 7 confers immunity to the exon skipping mutation in human SMN2Thomas Koed Doktor, Lisbeth Dahl Schrøder, Henriette Skovgaard Andersen, et al.
Plos One|September 24, 2013
Identification of six novel PTH1R mutations in families with a history of primary failure of tooth eruptionLotte Risom, Line Christoffersen, Jette Daugaard-Jensen, et al.
American Journal of Medical Genetics. Part A|May 15, 2008
Interstitial deletion of 1p22.2p31.1 and medium-chain acyl-CoA dehydrogenase deficiency in a patient with global developmental delayGustavo H B Maegawa, Nicola K Poplawski, Brage Storstein Andresen, et al.
Pageof 3