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Matteo Cassina

Showing results (51-60 of 70) with videos related to

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Journal of Medical Genetics|August 5, 2020
Biallelic mutations in the <i>TOGARAM1</i> gene cause a novel primary ciliopathyValeria Morbidoni, Emanuele Agolini, Kevin C Slep, et al.
Human Molecular Genetics|August 6, 2016
The COQ2 genotype predicts the severity of coenzyme Q10 deficiencyMaria Andrea Desbats, Valeria Morbidoni, Micol Silic-Benussi, et al.
Human Mutation|December 2, 2017
Mutations in COQ8B (ADCK4) found in patients with steroid-resistant nephrotic syndrome alter COQ8B functionLuis Vazquez Fonseca, Mara Doimo, Cristina Calderan, et al.
Neurogenetics|November 12, 2015
Clinical and molecular study in a long-surviving patient with MLASA syndrome due to novel PUS1 mutationsMichelangelo Cao, Marta Donà, M Lucia Valentino, et al.
Molecules (Basel, Switzerland)|March 13, 2015
Multigram synthesis and in vivo efficacy studies of a novel multitarget anti-Alzheimer's compoundIrene Sola, Elisabet Viayna, Tània Gómez, 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 Eating Disorders Review : the Journal of the Eating Disorders Association|October 24, 2017
Catechol-O-Methyltransferase (COMT) Val158Met Polymorphism and Eating Disorders: Data From a New Biobank and Meta-Analysis of Previously Published StudiesEnrico Collantoni, Marco Solmi, Davide Gallicchio, 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.
Human Molecular Genetics|February 27, 2019
Mutational spectrum and clinical signatures in 114 families with hereditary multiple osteochondromas: insights into molecular properties of selected exostosin variantsCarmela Fusco, Grazia Nardella, Rita Fischetto, et al.
Clinical Epigenetics|March 3, 2016
A multi-method approach to the molecular diagnosis of overt and borderline 11p15.5 defects underlying Silver-Russell and Beckwith-Wiedemann syndromesSilvia Russo, Luciano Calzari, Alessandro Mussa, et al.
Pageof 7

Showing results (51-60 of 70) with videos related to

Sort By:
Pageof 7
Journal of Medical Genetics|August 5, 2020
Biallelic mutations in the <i>TOGARAM1</i> gene cause a novel primary ciliopathyValeria Morbidoni, Emanuele Agolini, Kevin C Slep, et al.
Human Molecular Genetics|August 6, 2016
The COQ2 genotype predicts the severity of coenzyme Q10 deficiencyMaria Andrea Desbats, Valeria Morbidoni, Micol Silic-Benussi, et al.
Human Mutation|December 2, 2017
Mutations in COQ8B (ADCK4) found in patients with steroid-resistant nephrotic syndrome alter COQ8B functionLuis Vazquez Fonseca, Mara Doimo, Cristina Calderan, et al.
Neurogenetics|November 12, 2015
Clinical and molecular study in a long-surviving patient with MLASA syndrome due to novel PUS1 mutationsMichelangelo Cao, Marta Donà, M Lucia Valentino, et al.
Molecules (Basel, Switzerland)|March 13, 2015
Multigram synthesis and in vivo efficacy studies of a novel multitarget anti-Alzheimer's compoundIrene Sola, Elisabet Viayna, Tània Gómez, 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 Eating Disorders Review : the Journal of the Eating Disorders Association|October 24, 2017
Catechol-O-Methyltransferase (COMT) Val158Met Polymorphism and Eating Disorders: Data From a New Biobank and Meta-Analysis of Previously Published StudiesEnrico Collantoni, Marco Solmi, Davide Gallicchio, 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.
Human Molecular Genetics|February 27, 2019
Mutational spectrum and clinical signatures in 114 families with hereditary multiple osteochondromas: insights into molecular properties of selected exostosin variantsCarmela Fusco, Grazia Nardella, Rita Fischetto, et al.
Clinical Epigenetics|March 3, 2016
A multi-method approach to the molecular diagnosis of overt and borderline 11p15.5 defects underlying Silver-Russell and Beckwith-Wiedemann syndromesSilvia Russo, Luciano Calzari, Alessandro Mussa, et al.
Pageof 7