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Eva Trevisson

Showing results (21-30 of 86) with videos related to

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Human Molecular Genetics|October 11, 2007
LETM1, deleted in Wolf-Hirschhorn syndrome is required for normal mitochondrial morphology and cellular viabilityKai Stefan Dimmer, Francesca Navoni, Alberto Casarin, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|September 21, 2007
Increased level of N-acetylaspartylglutamate (NAAG) in the CSF of a patient with Pelizaeus-Merzbacher-like disease due to mutation in the GJA12 geneStefano Sartori, Alberto B Burlina, Leonardo Salviati, et al.
American Journal of Medical Genetics. Part A|October 20, 2009
X-linked brachytelephalangic chondrodysplasia punctata: a simple trait that is not so simpleAlberto Casarin, Francesca Rusalen, Mara Doimo, et al.
Neurogenetics|October 13, 2006
A novel deletion in the GJA12 gene causes Pelizaeus-Merzbacher-like diseaseLeonardo Salviati, Eva Trevisson, Maria Cristina Baldoin, et al.
Journal of Human Genetics|November 7, 2009
Is CFTR 621+3 A>G a cystic fibrosis causing mutation?Monica Forzan, Leonardo Salviati, Vanessa Pertegato, et al.
Ophthalmology. Retina|May 4, 2019
Retinal Vascular and Neural Remodeling Secondary to Optic Nerve Axonal Degeneration: A Study Using OCT AngiographyRaffaele Parrozzani, Francesca Leonardi, Luisa Frizziero, et al.
Gene|April 25, 2013
De novo trisomy 20p characterized by array comparative genomic hybridization: report of a novel case and review of the literatureLuca Bartolini, Stefano Sartori, Elisabetta Lenzini, et al.
Clinical Chemistry and Laboratory Medicine|March 18, 2015
Validation of CFTR intronic variants identified during cystic fibrosis population screening by a minigene splicing assayGianpietro Giorgi, Alberto Casarin, Eva Trevisson, et al.
Journal of Clinical Medicine|April 27, 2024
A Misdiagnosed Familiar Brooke-Spiegler Syndrome: Case Report and Review of the LiteratureTito Brambullo, Alberto De Lazzari, Arianna Franchi, et al.
Cancers|December 24, 2021
Epilepsy in NF1: Epidemiologic, Genetic, and Clinical Features. A Monocentric Retrospective Study in a Cohort of 784 PatientsUgo Sorrentino, Silvia Bellonzi, Chiara Mozzato, et al.
Pageof 9

Showing results (21-30 of 86) with videos related to

Sort By:
Pageof 9
Human Molecular Genetics|October 11, 2007
LETM1, deleted in Wolf-Hirschhorn syndrome is required for normal mitochondrial morphology and cellular viabilityKai Stefan Dimmer, Francesca Navoni, Alberto Casarin, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|September 21, 2007
Increased level of N-acetylaspartylglutamate (NAAG) in the CSF of a patient with Pelizaeus-Merzbacher-like disease due to mutation in the GJA12 geneStefano Sartori, Alberto B Burlina, Leonardo Salviati, et al.
American Journal of Medical Genetics. Part A|October 20, 2009
X-linked brachytelephalangic chondrodysplasia punctata: a simple trait that is not so simpleAlberto Casarin, Francesca Rusalen, Mara Doimo, et al.
Neurogenetics|October 13, 2006
A novel deletion in the GJA12 gene causes Pelizaeus-Merzbacher-like diseaseLeonardo Salviati, Eva Trevisson, Maria Cristina Baldoin, et al.
Journal of Human Genetics|November 7, 2009
Is CFTR 621+3 A>G a cystic fibrosis causing mutation?Monica Forzan, Leonardo Salviati, Vanessa Pertegato, et al.
Ophthalmology. Retina|May 4, 2019
Retinal Vascular and Neural Remodeling Secondary to Optic Nerve Axonal Degeneration: A Study Using OCT AngiographyRaffaele Parrozzani, Francesca Leonardi, Luisa Frizziero, et al.
Gene|April 25, 2013
De novo trisomy 20p characterized by array comparative genomic hybridization: report of a novel case and review of the literatureLuca Bartolini, Stefano Sartori, Elisabetta Lenzini, et al.
Clinical Chemistry and Laboratory Medicine|March 18, 2015
Validation of CFTR intronic variants identified during cystic fibrosis population screening by a minigene splicing assayGianpietro Giorgi, Alberto Casarin, Eva Trevisson, et al.
Journal of Clinical Medicine|April 27, 2024
A Misdiagnosed Familiar Brooke-Spiegler Syndrome: Case Report and Review of the LiteratureTito Brambullo, Alberto De Lazzari, Arianna Franchi, et al.
Cancers|December 24, 2021
Epilepsy in NF1: Epidemiologic, Genetic, and Clinical Features. A Monocentric Retrospective Study in a Cohort of 784 PatientsUgo Sorrentino, Silvia Bellonzi, Chiara Mozzato, et al.
Pageof 9