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S Andresen

Showing results (191-200 of 227) with videos related to

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Journal of Inherited Metabolic Disease|September 4, 2010
A comprehensive HADHA c.1528G>C frequency study reveals high prevalence of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency in PolandDorota Piekutowska-Abramczuk, Rikke K J Olsen, Jolanta Wierzba, et al.
Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [And] European Academy of Otology and Neurotology|July 25, 2022
Are Speech Perception Scores in Cochlear Implant Recipients Consistent Across Different Tests?Nicholas S Andresen, Varun Vohra, Deepa J Galaiya, et al.
Molecular Genetics and Metabolism|October 3, 2002
Identification of isobutyryl-CoA dehydrogenase and its deficiency in humansTien V Nguyen, Brage S Andresen, Thomas J Corydon, et al.
American Journal of Human Genetics|November 14, 2007
Genetic basis for correction of very-long-chain acyl-coenzyme A dehydrogenase deficiency by bezafibrate in patient fibroblasts: toward a genotype-based therapyS Gobin-Limballe, F Djouadi, F Aubey, et al.
The Journal of Investigative Dermatology|February 16, 1999
Identification of novel and known mutations in the genes for keratin 5 and 14 in Danish patients with epidermolysis bullosa simplex: correlation between genotype and phenotypeC B Sørensen, A S Ladekjaer-Mikkelsen, B S Andresen, et al.
American Journal of Human Genetics|May 12, 2001
Medium-chain acyl-CoA dehydrogenase (MCAD) mutations identified by MS/MS-based prospective screening of newborns differ from those observed in patients with clinical symptoms: identification and characterization of a new, prevalent mutation that results in mild MCAD deficiencyB S Andresen, S F Dobrowolski, L O'Reilly, et al.
Annals of Oncology : Official Journal of the European Society for Medical Oncology|September 19, 2006
Lenalidomide and pegylated liposomal doxorubicin-based chemotherapy for relapsed or refractory multiple myeloma: safety and efficacyR Baz, E Walker, M A Karam, et al.
Fish & Shellfish Immunology|January 4, 2024
Cell atlas of the Atlantic salmon spleen reveals immune cell heterogeneity and cell-specific responses to bacterial infectionJianxuan Sun, Rose Ruiz Daniels, Adam Balic, et al.
Human Molecular Genetics|April 1, 1996
Cloning and characterization of human very-long-chain acyl-CoA dehydrogenase cDNA, chromosomal assignment of the gene and identification in four patients of nine different mutations within the VLCAD geneB S Andresen, P Bross, C Vianey-Saban, et al.
Journal of Inherited Metabolic Disease|May 20, 2005
Biochemical, clinical and molecular findings in LCHAD and general mitochondrial trifunctional protein deficiencyS E Olpin, S Clark, B S Andresen, et al.
Pageof 23

Showing results (191-200 of 227) with videos related to

Sort By:
Pageof 23
Journal of Inherited Metabolic Disease|September 4, 2010
A comprehensive HADHA c.1528G>C frequency study reveals high prevalence of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency in PolandDorota Piekutowska-Abramczuk, Rikke K J Olsen, Jolanta Wierzba, et al.
Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [And] European Academy of Otology and Neurotology|July 25, 2022
Are Speech Perception Scores in Cochlear Implant Recipients Consistent Across Different Tests?Nicholas S Andresen, Varun Vohra, Deepa J Galaiya, et al.
Molecular Genetics and Metabolism|October 3, 2002
Identification of isobutyryl-CoA dehydrogenase and its deficiency in humansTien V Nguyen, Brage S Andresen, Thomas J Corydon, et al.
American Journal of Human Genetics|November 14, 2007
Genetic basis for correction of very-long-chain acyl-coenzyme A dehydrogenase deficiency by bezafibrate in patient fibroblasts: toward a genotype-based therapyS Gobin-Limballe, F Djouadi, F Aubey, et al.
The Journal of Investigative Dermatology|February 16, 1999
Identification of novel and known mutations in the genes for keratin 5 and 14 in Danish patients with epidermolysis bullosa simplex: correlation between genotype and phenotypeC B Sørensen, A S Ladekjaer-Mikkelsen, B S Andresen, et al.
American Journal of Human Genetics|May 12, 2001
Medium-chain acyl-CoA dehydrogenase (MCAD) mutations identified by MS/MS-based prospective screening of newborns differ from those observed in patients with clinical symptoms: identification and characterization of a new, prevalent mutation that results in mild MCAD deficiencyB S Andresen, S F Dobrowolski, L O'Reilly, et al.
Annals of Oncology : Official Journal of the European Society for Medical Oncology|September 19, 2006
Lenalidomide and pegylated liposomal doxorubicin-based chemotherapy for relapsed or refractory multiple myeloma: safety and efficacyR Baz, E Walker, M A Karam, et al.
Fish & Shellfish Immunology|January 4, 2024
Cell atlas of the Atlantic salmon spleen reveals immune cell heterogeneity and cell-specific responses to bacterial infectionJianxuan Sun, Rose Ruiz Daniels, Adam Balic, et al.
Human Molecular Genetics|April 1, 1996
Cloning and characterization of human very-long-chain acyl-CoA dehydrogenase cDNA, chromosomal assignment of the gene and identification in four patients of nine different mutations within the VLCAD geneB S Andresen, P Bross, C Vianey-Saban, et al.
Journal of Inherited Metabolic Disease|May 20, 2005
Biochemical, clinical and molecular findings in LCHAD and general mitochondrial trifunctional protein deficiencyS E Olpin, S Clark, B S Andresen, et al.
Pageof 23