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Niels Gregersen

Showing results (151-160 of 161) with videos related to

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Journal of Inherited Metabolic Disease|November 25, 2010
Urgent metabolic service improves survival in long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency detected by symptomatic identification and pilot newborn screeningJolanta Sykut-Cegielska, Wanda Gradowska, Dorota Piekutowska-Abramczuk, et al.
Nature Communications|April 18, 2024
High-throughput quantum photonic devices emitting indistinguishable photons in the telecom C-bandPaweł Holewa, Daniel A Vajner, Emilia Zięba-Ostój, et al.
Human Genetics|December 1, 2005
Short/branched-chain acyl-CoA dehydrogenase deficiency due to an IVS3+3A>G mutation that causes exon skippingPia Pinholt Madsen, Maria Kibaek, Xavier Roca, et al.
Orphanet Journal of Rare Diseases|October 7, 2010
A novel mutation of the ACADM gene (c.145C>G) associated with the common c.985A>G mutation on the other ACADM allele causes mild MCAD deficiency: a case reportAnne-Frédérique Dessein, Monique Fontaine, Brage S Andresen, et al.
Genome Medicine|May 5, 2016
Identification of the BRD1 interaction network and its impact on mental disorder riskTue Fryland, Jane H Christensen, Jonatan Pallesen, et al.
Molecular Genetics and Metabolism|July 17, 2012
Biochemical screening of 504,049 newborns in Denmark, the Faroe Islands and Greenland--experience and development of a routine program for expanded newborn screeningAllan Meldgaard Lund, David Michael Hougaard, Henrik Simonsen, et al.
Human Genetics|June 5, 2008
The ACADS gene variation spectrum in 114 patients with short-chain acyl-CoA dehydrogenase (SCAD) deficiency is dominated by missense variations leading to protein misfolding at the cellular levelChristina B Pedersen, Steen Kølvraa, Agnete Kølvraa, et al.
Brain : a Journal of Neurology|June 23, 2007
ETFDH mutations as a major cause of riboflavin-responsive multiple acyl-CoA dehydrogenation deficiencyRikke K J Olsen, Simon E Olpin, Brage S Andresen, et al.
Pediatric Research|July 22, 2006
Variations in IBD (ACAD8) in children with elevated C4-carnitine detected by tandem mass spectrometry newborn screeningChristina B Pedersen, Claus Bischoff, Ernst Christensen, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry|May 24, 2017
Fluxomic evidence for impaired contribution of short-chain acyl-CoA dehydrogenase to mitochondrial palmitate β-oxidation in symptomatic patients with ACADS gene susceptibility variantsAnne-Frédérique Dessein, Monique Fontaine, Marie Joncquel-Chevalier Curt, et al.
Pageof 17

Showing results (151-160 of 161) with videos related to

Sort By:
Pageof 17
Journal of Inherited Metabolic Disease|November 25, 2010
Urgent metabolic service improves survival in long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency detected by symptomatic identification and pilot newborn screeningJolanta Sykut-Cegielska, Wanda Gradowska, Dorota Piekutowska-Abramczuk, et al.
Nature Communications|April 18, 2024
High-throughput quantum photonic devices emitting indistinguishable photons in the telecom C-bandPaweł Holewa, Daniel A Vajner, Emilia Zięba-Ostój, et al.
Human Genetics|December 1, 2005
Short/branched-chain acyl-CoA dehydrogenase deficiency due to an IVS3+3A>G mutation that causes exon skippingPia Pinholt Madsen, Maria Kibaek, Xavier Roca, et al.
Orphanet Journal of Rare Diseases|October 7, 2010
A novel mutation of the ACADM gene (c.145C>G) associated with the common c.985A>G mutation on the other ACADM allele causes mild MCAD deficiency: a case reportAnne-Frédérique Dessein, Monique Fontaine, Brage S Andresen, et al.
Genome Medicine|May 5, 2016
Identification of the BRD1 interaction network and its impact on mental disorder riskTue Fryland, Jane H Christensen, Jonatan Pallesen, et al.
Molecular Genetics and Metabolism|July 17, 2012
Biochemical screening of 504,049 newborns in Denmark, the Faroe Islands and Greenland--experience and development of a routine program for expanded newborn screeningAllan Meldgaard Lund, David Michael Hougaard, Henrik Simonsen, et al.
Human Genetics|June 5, 2008
The ACADS gene variation spectrum in 114 patients with short-chain acyl-CoA dehydrogenase (SCAD) deficiency is dominated by missense variations leading to protein misfolding at the cellular levelChristina B Pedersen, Steen Kølvraa, Agnete Kølvraa, et al.
Brain : a Journal of Neurology|June 23, 2007
ETFDH mutations as a major cause of riboflavin-responsive multiple acyl-CoA dehydrogenation deficiencyRikke K J Olsen, Simon E Olpin, Brage S Andresen, et al.
Pediatric Research|July 22, 2006
Variations in IBD (ACAD8) in children with elevated C4-carnitine detected by tandem mass spectrometry newborn screeningChristina B Pedersen, Claus Bischoff, Ernst Christensen, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry|May 24, 2017
Fluxomic evidence for impaired contribution of short-chain acyl-CoA dehydrogenase to mitochondrial palmitate β-oxidation in symptomatic patients with ACADS gene susceptibility variantsAnne-Frédérique Dessein, Monique Fontaine, Marie Joncquel-Chevalier Curt, et al.
Pageof 17