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Eva Trevisson

Showing results (11-20 of 86) with videos related to

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American Journal of Human Genetics|January 10, 2006
A mutation in para-hydroxybenzoate-polyprenyl transferase (COQ2) causes primary coenzyme Q10 deficiencyCatarina Quinzii, Ali Naini, Leonardo Salviati, et al.
European Journal of Human Genetics : EJHG|December 15, 2016
A synonymous splicing mutation in the SF3B4 gene segregates in a family with highly variable Nager syndromeMatteo Cassina, Cristina Cerqua, Silvia Rossi, et al.
European Journal of Human Genetics : EJHG|March 15, 2024
A yeast based assay establishes the pathogenicity of novel missense ACTA2 variants associated with aortic aneurysmsCristina Calderan, Ugo Sorrentino, Luca Persano, et al.
Journal of Human Genetics|September 29, 2006
Molecular analysis of two uncharacterized sequence variants of the VHL geneMaddalena Martella, Leonardo Salviati, Alberto Casarin, et al.
Audiology Research|October 26, 2021
DFNA20/26 and Other ACTG1-Associated Phenotypes: A Case Report and Review of the LiteratureUgo Sorrentino, Chiara Piccolo, Chiara Rigon, et al.
Clinical Chemistry|February 16, 2026
Characterization of STRC Gene Conversions by Nanopore SequencingChiara Rigon, Ugo Sorrentino, Sara Volta, et al.
Investigative Ophthalmology & Visual Science|October 31, 2013
Optical coherence tomography in the diagnosis of optic pathway gliomasRaffaele Parrozzani, Maurizio Clementi, Olympia Kotsafti, et al.
The Journal of Biological Chemistry|March 12, 2010
The conserved mitochondrial twin Cx9C protein Cmc2 Is a Cmc1 homologue essential for cytochrome c oxidase biogenesisDarryl Horn, Wen Zhou, Eva Trevisson, et al.
Biochimica Et Biophysica Acta|April 10, 2016
Coenzyme Q biosynthesis in health and diseaseManuel Jesús Acosta, Luis Vazquez Fonseca, Maria Andrea Desbats, et al.
JIMD Reports|November 22, 2015
Heterologous Expression in Yeast of Human Ornithine Carriers ORNT1 and ORNT2 and of ORNT1 Alleles Implicated in HHH Syndrome in HumansMara Doimo, Raffaele Lopreiato, Valentina Basso, et al.
Pageof 9

Showing results (11-20 of 86) with videos related to

Sort By:
Pageof 9
American Journal of Human Genetics|January 10, 2006
A mutation in para-hydroxybenzoate-polyprenyl transferase (COQ2) causes primary coenzyme Q10 deficiencyCatarina Quinzii, Ali Naini, Leonardo Salviati, et al.
European Journal of Human Genetics : EJHG|December 15, 2016
A synonymous splicing mutation in the SF3B4 gene segregates in a family with highly variable Nager syndromeMatteo Cassina, Cristina Cerqua, Silvia Rossi, et al.
European Journal of Human Genetics : EJHG|March 15, 2024
A yeast based assay establishes the pathogenicity of novel missense ACTA2 variants associated with aortic aneurysmsCristina Calderan, Ugo Sorrentino, Luca Persano, et al.
Journal of Human Genetics|September 29, 2006
Molecular analysis of two uncharacterized sequence variants of the VHL geneMaddalena Martella, Leonardo Salviati, Alberto Casarin, et al.
Audiology Research|October 26, 2021
DFNA20/26 and Other ACTG1-Associated Phenotypes: A Case Report and Review of the LiteratureUgo Sorrentino, Chiara Piccolo, Chiara Rigon, et al.
Clinical Chemistry|February 16, 2026
Characterization of STRC Gene Conversions by Nanopore SequencingChiara Rigon, Ugo Sorrentino, Sara Volta, et al.
Investigative Ophthalmology & Visual Science|October 31, 2013
Optical coherence tomography in the diagnosis of optic pathway gliomasRaffaele Parrozzani, Maurizio Clementi, Olympia Kotsafti, et al.
The Journal of Biological Chemistry|March 12, 2010
The conserved mitochondrial twin Cx9C protein Cmc2 Is a Cmc1 homologue essential for cytochrome c oxidase biogenesisDarryl Horn, Wen Zhou, Eva Trevisson, et al.
Biochimica Et Biophysica Acta|April 10, 2016
Coenzyme Q biosynthesis in health and diseaseManuel Jesús Acosta, Luis Vazquez Fonseca, Maria Andrea Desbats, et al.
JIMD Reports|November 22, 2015
Heterologous Expression in Yeast of Human Ornithine Carriers ORNT1 and ORNT2 and of ORNT1 Alleles Implicated in HHH Syndrome in HumansMara Doimo, Raffaele Lopreiato, Valentina Basso, et al.
Pageof 9