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Eva Trevisson

Showing results (41-50 of 86) with videos related to

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American Journal of Medical Genetics. Part A|March 23, 2026
Complex Genetic Architecture in RASopathies: Constitutional PTPN11 and Mosaic RIT1 Pathogenic Variants Underlying Severe Noonan Syndrome With Adult-Onset Acute Myeloid LeukemiaFrancesco Prevedello, Dario Seif Ali, Chiara Piccolo, et al.
Biochimica Et Biophysica Acta|August 26, 2014
Molecular characterization of the human COQ5 C-methyltransferase in coenzyme Q10 biosynthesisTheresa P T Nguyen, Alberto Casarin, Maria Andrea Desbats, et al.
Biochimica Et Biophysica Acta. Bioenergetics|January 23, 2018
COX16 is required for assembly of cytochrome c oxidase in human cells and is involved in copper delivery to COX2Cristina Cerqua, Valeria Morbidoni, Maria Andrea Desbats, et al.
Investigative Ophthalmology & Visual Science|September 23, 2015
In Vivo Detection of Choroidal Abnormalities Related to NF1: Feasibility and Comparison With Standard NIH Diagnostic Criteria in Pediatric PatientsRaffaele Parrozzani, Maurizio Clementi, Luisa Frizziero, et al.
Retina (Philadelphia, Pa.)|March 2, 2017
RETINAL VASCULAR ABNORMALITIES IN A LARGE COHORT OF PATIENTS AFFECTED BY NEUROFIBROMATOSIS TYPE 1: A Study Using Optical Coherence Tomography AngiographyRaffaele Parrozzani, Elisabetta Pilotto, Maurizio Clementi, et al.
Cancers|March 6, 2021
Hybrid Minigene Assay: An Efficient Tool to Characterize mRNA Splicing Profiles of <i>NF1</i> VariantsValeria Morbidoni, Elisa Baschiera, Monica Forzan, et al.
Neuromuscular Disorders : NMD|December 1, 2009
Coenzyme Q10 is frequently reduced in muscle of patients with mitochondrial myopathySabrina Sacconi, Eva Trevisson, Leonardo Salviati, et al.
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 Mutation|October 19, 2012
Functional analysis of missense mutations of OAT, causing gyrate atrophy of choroid and retinaMara Doimo, Maria Andrea Desbats, Maria Cristina Baldoin, et al.
Clinical Biochemistry|April 5, 2008
Analysis of coenzyme Q10 in muscle and fibroblasts for the diagnosis of CoQ10 deficiency syndromesRaquel Montero, José Antonio Sánchez-Alcázar, Paz Briones, et al.
Pageof 9

Showing results (41-50 of 86) with videos related to

Sort By:
Pageof 9
American Journal of Medical Genetics. Part A|March 23, 2026
Complex Genetic Architecture in RASopathies: Constitutional PTPN11 and Mosaic RIT1 Pathogenic Variants Underlying Severe Noonan Syndrome With Adult-Onset Acute Myeloid LeukemiaFrancesco Prevedello, Dario Seif Ali, Chiara Piccolo, et al.
Biochimica Et Biophysica Acta|August 26, 2014
Molecular characterization of the human COQ5 C-methyltransferase in coenzyme Q10 biosynthesisTheresa P T Nguyen, Alberto Casarin, Maria Andrea Desbats, et al.
Biochimica Et Biophysica Acta. Bioenergetics|January 23, 2018
COX16 is required for assembly of cytochrome c oxidase in human cells and is involved in copper delivery to COX2Cristina Cerqua, Valeria Morbidoni, Maria Andrea Desbats, et al.
Investigative Ophthalmology & Visual Science|September 23, 2015
In Vivo Detection of Choroidal Abnormalities Related to NF1: Feasibility and Comparison With Standard NIH Diagnostic Criteria in Pediatric PatientsRaffaele Parrozzani, Maurizio Clementi, Luisa Frizziero, et al.
Retina (Philadelphia, Pa.)|March 2, 2017
RETINAL VASCULAR ABNORMALITIES IN A LARGE COHORT OF PATIENTS AFFECTED BY NEUROFIBROMATOSIS TYPE 1: A Study Using Optical Coherence Tomography AngiographyRaffaele Parrozzani, Elisabetta Pilotto, Maurizio Clementi, et al.
Cancers|March 6, 2021
Hybrid Minigene Assay: An Efficient Tool to Characterize mRNA Splicing Profiles of <i>NF1</i> VariantsValeria Morbidoni, Elisa Baschiera, Monica Forzan, et al.
Neuromuscular Disorders : NMD|December 1, 2009
Coenzyme Q10 is frequently reduced in muscle of patients with mitochondrial myopathySabrina Sacconi, Eva Trevisson, Leonardo Salviati, et al.
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 Mutation|October 19, 2012
Functional analysis of missense mutations of OAT, causing gyrate atrophy of choroid and retinaMara Doimo, Maria Andrea Desbats, Maria Cristina Baldoin, et al.
Clinical Biochemistry|April 5, 2008
Analysis of coenzyme Q10 in muscle and fibroblasts for the diagnosis of CoQ10 deficiency syndromesRaquel Montero, José Antonio Sánchez-Alcázar, Paz Briones, et al.
Pageof 9