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Daniele Ghezzi

Showing results (81-90 of 143) with videos related to

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The Science of the Total Environment|August 14, 2021
Dominance of Arcobacter in the white filaments from the thermal sulfidic spring of Fetida Cave (Apulia, southern Italy)Valme Jurado, Ilenia D'Angeli, Tamara Martin-Pozas, et al.
Orphanet Journal of Rare Diseases|May 3, 2013
Adult-onset Alexander disease, associated with a mutation in an alternative GFAP transcript, may be phenotypically modulated by a non-neutral HDAC6 variantLaura Melchionda, Mingyan Fang, Hairong Wang, et al.
International Journal of Molecular Sciences|January 25, 2025
De Novo <i>DNM1L</i> Pathogenic Variant Associated with Lethal Encephalocardiomyopathy-Case Report and Literature ReviewMartina Magistrati, Luisa Zupin, Eleonora Lamantea, et al.
Orphanet Journal of Rare Diseases|April 5, 2018
KARS-related diseases: progressive leukoencephalopathy with brainstem and spinal cord calcifications as new phenotype and a review of literatureAnna Ardissone, Davide Tonduti, Andrea Legati, et al.
Mitochondrion|March 31, 2025
An inherited mtDNA rearrangement, mimicking a single large-scale deletion, associated with MIDD and a primary cardiological phenotypePiervito Lopriore, Andrea Legati, Christiane Michaela Neuhofer, et al.
Journal of Human Genetics|March 14, 2018
Compound heterozygous missense and deep intronic variants in NDUFAF6 unraveled by exome sequencing and mRNA analysisAlessia Catania, Anna Ardissone, Daniela Verrigni, et al.
European Journal of Human Genetics : EJHG|July 16, 2015
A novel AIFM1 mutation expands the phenotype to an infantile motor neuron diseaseDaria Diodato, Giorgio Tasca, Daniela Verrigni, et al.
Microbiological Research|June 20, 2024
Ancient and remote quartzite caves as a novel source of culturable microbes with biotechnological potentialDaniele Ghezzi, Luca Salvi, Paolo E Costantini, et al.
American Journal of Human Genetics|December 11, 2012
Cowchock syndrome is associated with a mutation in apoptosis-inducing factorCarlo Rinaldi, Christopher Grunseich, Irina F Sevrioukova, et al.
Plos One|August 9, 2019
Geomicrobiology of a seawater-influenced active sulfuric acid caveIlenia M D'Angeli, Daniele Ghezzi, Stefan Leuko, et al.
Pageof 15

Showing results (81-90 of 143) with videos related to

Sort By:
Pageof 15
The Science of the Total Environment|August 14, 2021
Dominance of Arcobacter in the white filaments from the thermal sulfidic spring of Fetida Cave (Apulia, southern Italy)Valme Jurado, Ilenia D'Angeli, Tamara Martin-Pozas, et al.
Orphanet Journal of Rare Diseases|May 3, 2013
Adult-onset Alexander disease, associated with a mutation in an alternative GFAP transcript, may be phenotypically modulated by a non-neutral HDAC6 variantLaura Melchionda, Mingyan Fang, Hairong Wang, et al.
International Journal of Molecular Sciences|January 25, 2025
De Novo <i>DNM1L</i> Pathogenic Variant Associated with Lethal Encephalocardiomyopathy-Case Report and Literature ReviewMartina Magistrati, Luisa Zupin, Eleonora Lamantea, et al.
Orphanet Journal of Rare Diseases|April 5, 2018
KARS-related diseases: progressive leukoencephalopathy with brainstem and spinal cord calcifications as new phenotype and a review of literatureAnna Ardissone, Davide Tonduti, Andrea Legati, et al.
Mitochondrion|March 31, 2025
An inherited mtDNA rearrangement, mimicking a single large-scale deletion, associated with MIDD and a primary cardiological phenotypePiervito Lopriore, Andrea Legati, Christiane Michaela Neuhofer, et al.
Journal of Human Genetics|March 14, 2018
Compound heterozygous missense and deep intronic variants in NDUFAF6 unraveled by exome sequencing and mRNA analysisAlessia Catania, Anna Ardissone, Daniela Verrigni, et al.
European Journal of Human Genetics : EJHG|July 16, 2015
A novel AIFM1 mutation expands the phenotype to an infantile motor neuron diseaseDaria Diodato, Giorgio Tasca, Daniela Verrigni, et al.
Microbiological Research|June 20, 2024
Ancient and remote quartzite caves as a novel source of culturable microbes with biotechnological potentialDaniele Ghezzi, Luca Salvi, Paolo E Costantini, et al.
American Journal of Human Genetics|December 11, 2012
Cowchock syndrome is associated with a mutation in apoptosis-inducing factorCarlo Rinaldi, Christopher Grunseich, Irina F Sevrioukova, et al.
Plos One|August 9, 2019
Geomicrobiology of a seawater-influenced active sulfuric acid caveIlenia M D'Angeli, Daniele Ghezzi, Stefan Leuko, et al.
Pageof 15