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Valerio Carelli

Showing results (221-230 of 332) with videos related to

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Clinical Genetics|December 21, 2024
Effectiveness and Impact of Transcript Analysis in Clinical Genetics Daily PracticeGiovanni Innella, Emanuele Coccia, Carlotta Pia Cristalli, et al.
Frontiers in Genetics|June 20, 2022
Case Report: Optic Atrophy and Nephropathy With m.13513G>A/MT-ND5 mtDNA Pathogenic VariantValentina Barone, Chiara La Morgia, Leonardo Caporali, et al.
Journal of Cellular and Molecular Medicine|January 21, 2021
An increased burden of rare exonic variants in NRXN1 microdeletion carriers is likely to enhance the penetrance for autism spectrum disorderCinzia Cameli, Marta Viggiano, Magali J Rochat, et al.
Translational Vision Science & Technology|June 10, 2025
Machine Learning Applied to Visual Fields of Dominant Optic Atrophy PatientsCatarina P Coutinho, Ferdinando Zanchetta, Michele Carbonelli, et al.
Proceedings of the National Academy of Sciences of the United States of America|May 23, 2007
Disruptive mitochondrial DNA mutations in complex I subunits are markers of oncocytic phenotype in thyroid tumorsGiuseppe Gasparre, Anna Maria Porcelli, Elena Bonora, et al.
NPJ Genomic Medicine|March 23, 2024
Genomic analysis of 116 autism families strengthens known risk genes and highlights promising candidatesMarta Viggiano, Fabiola Ceroni, Paola Visconti, et al.
Journal of Internal Medicine|February 27, 2026
Collagen and microvascular alterations contribute to neuromuscular degeneration and disease progression in chronic intestinal pseudo-obstructionElisa Boschetti, Irene Neri, Leonardo Caporali, et al.
Sleep Medicine|April 9, 2014
Polysomnographic and neurometabolic features may mark preclinical autosomal dominant cerebellar ataxia, deafness, and narcolepsy due to a mutation in the DNA (cytosine-5-)-methyltransferase gene, DNMT1Keivan Kaveh Moghadam, Fabio Pizza, Caterina Tonon, et al.
Brain : a Journal of Neurology|June 28, 2014
Pure and syndromic optic atrophy explained by deep intronic OPA1 mutations and an intralocus modifierTobias Bonifert, Kathrin N Karle, Felix Tonagel, et al.
Annals of Clinical and Translational Neurology|May 5, 2021
Brain MRS correlates with mitochondrial dysfunction biomarkers in MELAS-associated mtDNA mutationsLaura L Gramegna, Stefania Evangelisti, Lidia Di Vito, et al.
Pageof 34

Showing results (221-230 of 332) with videos related to

Sort By:
Pageof 34
Clinical Genetics|December 21, 2024
Effectiveness and Impact of Transcript Analysis in Clinical Genetics Daily PracticeGiovanni Innella, Emanuele Coccia, Carlotta Pia Cristalli, et al.
Frontiers in Genetics|June 20, 2022
Case Report: Optic Atrophy and Nephropathy With m.13513G>A/MT-ND5 mtDNA Pathogenic VariantValentina Barone, Chiara La Morgia, Leonardo Caporali, et al.
Journal of Cellular and Molecular Medicine|January 21, 2021
An increased burden of rare exonic variants in NRXN1 microdeletion carriers is likely to enhance the penetrance for autism spectrum disorderCinzia Cameli, Marta Viggiano, Magali J Rochat, et al.
Translational Vision Science & Technology|June 10, 2025
Machine Learning Applied to Visual Fields of Dominant Optic Atrophy PatientsCatarina P Coutinho, Ferdinando Zanchetta, Michele Carbonelli, et al.
Proceedings of the National Academy of Sciences of the United States of America|May 23, 2007
Disruptive mitochondrial DNA mutations in complex I subunits are markers of oncocytic phenotype in thyroid tumorsGiuseppe Gasparre, Anna Maria Porcelli, Elena Bonora, et al.
NPJ Genomic Medicine|March 23, 2024
Genomic analysis of 116 autism families strengthens known risk genes and highlights promising candidatesMarta Viggiano, Fabiola Ceroni, Paola Visconti, et al.
Journal of Internal Medicine|February 27, 2026
Collagen and microvascular alterations contribute to neuromuscular degeneration and disease progression in chronic intestinal pseudo-obstructionElisa Boschetti, Irene Neri, Leonardo Caporali, et al.
Sleep Medicine|April 9, 2014
Polysomnographic and neurometabolic features may mark preclinical autosomal dominant cerebellar ataxia, deafness, and narcolepsy due to a mutation in the DNA (cytosine-5-)-methyltransferase gene, DNMT1Keivan Kaveh Moghadam, Fabio Pizza, Caterina Tonon, et al.
Brain : a Journal of Neurology|June 28, 2014
Pure and syndromic optic atrophy explained by deep intronic OPA1 mutations and an intralocus modifierTobias Bonifert, Kathrin N Karle, Felix Tonagel, et al.
Annals of Clinical and Translational Neurology|May 5, 2021
Brain MRS correlates with mitochondrial dysfunction biomarkers in MELAS-associated mtDNA mutationsLaura L Gramegna, Stefania Evangelisti, Lidia Di Vito, et al.
Pageof 34