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	1.	A synonymous polymorphic variation in ACADM exon 11 affects splicing efficiency and may affect fatty acid oxidation. [electronic resource] by Bruun, Gitte Hoffmann Doktor, Thomas Koed Andresen, Brage Storstein Producer: 20140317 In: Molecular genetics and metabolism vol. 110 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2.	Splicing of phenylalanine hydroxylase (PAH) exon 11 is vulnerable: molecular pathology of mutations in PAH exon 11. [electronic resource] by Heintz, Caroline Dobrowolski, Steven F Andersen, Henriette Skovgaard Demirkol, Mübeccel Blau, Nenad Andresen, Brage Storstein Producer: 20121203 In: Molecular genetics and metabolism vol. 106 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3.	CUGBP1 and MBNL1 preferentially bind to 3' UTRs and facilitate mRNA decay. [electronic resource] by Masuda, Akio Andersen, Henriette Skovgaard Doktor, Thomas Koed Okamoto, Takaaki Ito, Mikako Andresen, Brage Storstein Ohno, Kinji Producer: 20130412 In: Scientific reports vol. 2 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4.	SMN2 exon 7 splicing is inhibited by binding of hnRNP A1 to a common ESS motif that spans the 3' splice site. [electronic resource] by Doktor, Thomas Koed Schroeder, Lisbeth Dahl Vested, Anne Palmfeldt, Johan Andersen, Henriette Skovgaard Gregersen, Niels Andresen, Brage Storstein Producer: 20110324 In: Human mutation vol. 32 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5.	A Large Intragenic Deletion in the ACADM Gene Can Cause MCAD Deficiency but is not Detected on Routine Sequencing. [electronic resource] by Searle, Claire Andresen, Brage Storstein Wraith, Ed Higgs, Jamie Gray, Deborah Mills, Alison Allen, K Elizabeth Hobson, Emma Producer: 20130827 In: JIMD reports vol. 11 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	6.	High-resolution melting analysis, a simple and effective method for reliable mutation scanning and frequency studies in the ACADVL gene. [electronic resource] by Olsen, Rikke Katrine Jentoft Dobrowolski, Steven F Kjeldsen, Margrethe Hougaard, David Simonsen, Henrik Gregersen, Niels Andresen, Brage Storstein Producer: 20100928 In: Journal of inherited metabolic disease vol. 33 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	7.	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 silencer. [electronic resource] by Palhais, Bruno Dembic, Maja Sabaratnam, Rugivan Nielsen, Kira S Doktor, Thomas Koed Bruun, Gitte Hoffmann Andresen, Brage Storstein Producer: 20171120 In: Molecular genetics and metabolism vol. 119 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	8.	Absence of an intron splicing silencer in porcine Smn1 intron 7 confers immunity to the exon skipping mutation in human SMN2. [electronic resource] by Doktor, Thomas Koed Schrøder, Lisbeth Dahl Andersen, Henriette Skovgaard Brøner, Sabrina Kitewska, Anna Sørensen, Charlotte Brandt Andresen, Brage Storstein Producer: 20150805 In: PloS one vol. 9 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	9.	Identification of six novel PTH1R mutations in families with a history of primary failure of tooth eruption. [electronic resource] by Risom, Lotte Christoffersen, Line Daugaard-Jensen, Jette Hove, Hanne Dahlgaard Andersen, Henriette Skovgaard Andresen, Brage Storstein Kreiborg, Sven Duno, Morten Producer: 20140616 In: PloS one vol. 8 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	10.	Interstitial deletion of 1p22.2p31.1 and medium-chain acyl-CoA dehydrogenase deficiency in a patient with global developmental delay. [electronic resource] by Maegawa, Gustavo H B Poplawski, Nicola K Andresen, Brage Storstein Olpin, Simon E Nie, Gloria Clarke, Joe T R Teshima, Ikuko Producer: 20080616 In: American journal of medical genetics. Part A vol. 146A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	11.	Normal Levels of Plasma Free Carnitine and Acylcarnitines in Follow-Up Samples from a Presymptomatic Case of Carnitine Palmitoyl Transferase 1 (CPT1) Deficiency Detected Through Newborn Screening in Denmark. [electronic resource] by Borch, Luise Lund, Allan Meldgaard Wibrand, Flemming Christensen, Ernst Søndergaard, Charlotte Gahrn, Birthe Hougaard, David Michael Andresen, Brage Storstein Gregersen, Niels Olsen, Rikke Katrine Jentoft Producer: 20130225 In: JIMD reports vol. 3 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	12.	2-Methylbutyryl-coenzyme A dehydrogenase deficiency: functional and molecular studies on a defect in isoleucine catabolism. [electronic resource] by Sass, Jörn Oliver Ensenauer, Regina Röschinger, Wulf Reich, Horst Steuerwald, Ulrike Schirrmacher, Oliver Engel, Katharina Häberle, Johannes Andresen, Brage Storstein Mégarbané, André Lehnert, Willy Zschocke, Johannes Producer: 20080410 In: Molecular genetics and metabolism vol. 93 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	13.	RNA-sequencing of a mouse-model of spinal muscular atrophy reveals tissue-wide changes in splicing of U12-dependent introns. [electronic resource] by Doktor, Thomas Koed Hua, Yimin Andersen, Henriette Skovgaard Brøner, Sabrina Liu, Ying Hsiu Wieckowska, Anna Dembic, Maja Bruun, Gitte Hoffmann Krainer, Adrian R Andresen, Brage Storstein Producer: 20170606 In: Nucleic acids research vol. 45 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	14.	Splice-shifting oligonucleotide (SSO) mediated blocking of an exonic splicing enhancer (ESE) created by the prevalent c.903+469T>C MTRR mutation corrects splicing and restores enzyme activity in patient cells. [electronic resource] by Palhais, Bruno Præstegaard, Veronica S Sabaratnam, Rugivan Doktor, Thomas Koed Lutz, Seraina Burda, Patricie Suormala, Terttu Baumgartner, Matthias Fowler, Brian Bruun, Gitte Hoffmann Andersen, Henriette Skovgaard Kožich, Viktor Andresen, Brage Storstein Producer: 20150731 In: Nucleic acids research vol. 43 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	15.	The Y42H mutation in medium-chain acyl-CoA dehydrogenase, which is prevalent in babies identified by MS/MS-based newborn screening, is temperature sensitive. [electronic resource] by O'Reilly, Linda Bross, Peter Corydon, Thomas J Olpin, Simon E Hansen, Jakob Kenney, John M McCandless, Shawn E Frazier, Dianne M Winter, Vibeke Gregersen, Niels Engel, Paul C Andresen, Brage Storstein Producer: 20050127 In: European journal of biochemistry vol. 271 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	16.	Seemingly neutral polymorphic variants may confer immunity to splicing-inactivating mutations: a synonymous SNP in exon 5 of MCAD protects from deleterious mutations in a flanking exonic splicing enhancer. [electronic resource] by Nielsen, Karsten Bork Sørensen, Suzette Cartegni, Luca Corydon, Thomas Juhl Doktor, Thomas Koed Schroeder, Lisbeth Dahl Reinert, Line Sinnathamby Elpeleg, Orly Krainer, Adrian R Gregersen, Niels Kjems, Jørgen Andresen, Brage Storstein Producer: 20070405 In: American journal of human genetics vol. 80 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	17.	MCAD deficiency in Denmark. [electronic resource] by Andresen, Brage Storstein Lund, Allan Meldgaard Hougaard, David Michael Christensen, Ernst Gahrn, Birthe Christensen, Mette Bross, Peter Vested, Anne Simonsen, Henrik Skogstrand, Kristin Olpin, Simon Brandt, Niels Jacob Skovby, Flemming Nørgaard-Pedersen, Bent Gregersen, Niels Producer: 20120918 In: Molecular genetics and metabolism vol. 106 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	18.	Short/branched-chain acyl-CoA dehydrogenase deficiency due to an IVS3+3A>G mutation that causes exon skipping. [electronic resource] by Madsen, Pia Pinholt Kibaek, Maria Roca, Xavier Sachidanandam, Ravi Krainer, Adrian R Christensen, Ernst Steiner, Robert D Gibson, K Michael Corydon, Thomas J Knudsen, Inga Wanders, Ronald J A Ruiter, Jos P N Gregersen, Niels Andresen, Brage Storstein Producer: 20070309 In: Human genetics vol. 118 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	19.	Biochemical screening of 504,049 newborns in Denmark, the Faroe Islands and Greenland--experience and development of a routine program for expanded newborn screening. [electronic resource] by Lund, Allan Meldgaard Hougaard, David Michael Simonsen, Henrik Andresen, Brage Storstein Christensen, Mette Dunø, Morten Skogstrand, Kristin Olsen, Rikke K J Jensen, Ulrich Glümer Cohen, Arieh Larsen, Nanna Saugmann-Jensen, Peter Gregersen, Niels Brandt, Niels Jacob Christensen, Ernst Skovby, Flemming Nørgaard-Pedersen, Bent Producer: 20130327 In: Molecular genetics and metabolism vol. 107 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)