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Eva Trevisson

Showing results (61-70 of 86) with videos related to

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Biochemical and Biophysical Research Communications|May 14, 2008
Functional characterization of human COQ4, a gene required for Coenzyme Q10 biosynthesisAlberto Casarin, Jose Carlos Jimenez-Ortega, Eva Trevisson, et al.
European Journal of Human Genetics : EJHG|April 18, 2018
Parent-of-origin effect of hypomorphic pathogenic variants and somatic mosaicism impact on phenotypic expression of retinoblastomaValentina Imperatore, Anna Maria Pinto, Elisa Gelli, et al.
Human Molecular Genetics|March 14, 2008
A functionally dominant mitochondrial DNA mutationSabrina Sacconi, Leonardo Salviati, Yutaka Nishigaki, et al.
Cells|October 23, 2021
Integrated CGH/WES Analyses Advance Understanding of Aggressive Neuroblastoma Evolution: A Case StudyDiana Corallo, Carlo Zanon, Marcella Pantile, et al.
Orphanet Journal of Rare Diseases|April 21, 2012
Copper and bezafibrate cooperate to rescue cytochrome c oxidase deficiency in cells of patients with SCO2 mutationsAlberto Casarin, Gianpietro Giorgi, Vanessa Pertegato, et al.
European Journal of Human Genetics : EJHG|January 8, 2015
Primary coenzyme Q10 deficiency presenting as fatal neonatal multiorgan failureMaria Andrea Desbats, Annalisa Vetro, Ivan Limongelli, et al.
Journal of Medical Genetics|February 28, 2012
Haploinsufficiency of COQ4 causes coenzyme Q10 deficiencyLeonardo Salviati, Eva Trevisson, Maria Angeles Rodriguez Hernandez, et al.
Oxidative Medicine and Cellular Longevity|August 6, 2019
Vanillic Acid Restores Coenzyme Q Biosynthesis and ATP Production in Human Cells Lacking <i>COQ6</i>Manuel J Acosta Lopez, Eva Trevisson, Marcella Canton, et al.
European Journal of Human Genetics : EJHG|November 6, 2014
p.Arg1809Cys substitution in neurofibromin is associated with a distinctive NF1 phenotype without neurofibromasValentina Pinna, Valentina Lanari, Paola Daniele, et al.
Cancers|March 6, 2019
Usefulness and Limitations of Comprehensive Characterization of mRNA Splicing Profiles in the Definition of the Clinical Relevance of <i>BRCA1/2</i> Variants of Uncertain SignificanceElisa Gelli, Mara Colombo, Anna Maria Pinto, et al.
Pageof 9

Showing results (61-70 of 86) with videos related to

Sort By:
Pageof 9
Biochemical and Biophysical Research Communications|May 14, 2008
Functional characterization of human COQ4, a gene required for Coenzyme Q10 biosynthesisAlberto Casarin, Jose Carlos Jimenez-Ortega, Eva Trevisson, et al.
European Journal of Human Genetics : EJHG|April 18, 2018
Parent-of-origin effect of hypomorphic pathogenic variants and somatic mosaicism impact on phenotypic expression of retinoblastomaValentina Imperatore, Anna Maria Pinto, Elisa Gelli, et al.
Human Molecular Genetics|March 14, 2008
A functionally dominant mitochondrial DNA mutationSabrina Sacconi, Leonardo Salviati, Yutaka Nishigaki, et al.
Cells|October 23, 2021
Integrated CGH/WES Analyses Advance Understanding of Aggressive Neuroblastoma Evolution: A Case StudyDiana Corallo, Carlo Zanon, Marcella Pantile, et al.
Orphanet Journal of Rare Diseases|April 21, 2012
Copper and bezafibrate cooperate to rescue cytochrome c oxidase deficiency in cells of patients with SCO2 mutationsAlberto Casarin, Gianpietro Giorgi, Vanessa Pertegato, et al.
European Journal of Human Genetics : EJHG|January 8, 2015
Primary coenzyme Q10 deficiency presenting as fatal neonatal multiorgan failureMaria Andrea Desbats, Annalisa Vetro, Ivan Limongelli, et al.
Journal of Medical Genetics|February 28, 2012
Haploinsufficiency of COQ4 causes coenzyme Q10 deficiencyLeonardo Salviati, Eva Trevisson, Maria Angeles Rodriguez Hernandez, et al.
Oxidative Medicine and Cellular Longevity|August 6, 2019
Vanillic Acid Restores Coenzyme Q Biosynthesis and ATP Production in Human Cells Lacking <i>COQ6</i>Manuel J Acosta Lopez, Eva Trevisson, Marcella Canton, et al.
European Journal of Human Genetics : EJHG|November 6, 2014
p.Arg1809Cys substitution in neurofibromin is associated with a distinctive NF1 phenotype without neurofibromasValentina Pinna, Valentina Lanari, Paola Daniele, et al.
Cancers|March 6, 2019
Usefulness and Limitations of Comprehensive Characterization of mRNA Splicing Profiles in the Definition of the Clinical Relevance of <i>BRCA1/2</i> Variants of Uncertain SignificanceElisa Gelli, Mara Colombo, Anna Maria Pinto, et al.
Pageof 9