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Fernando Scaglia

Showing results (121-130 of 190) with videos related to

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Cold Spring Harbor Molecular Case Studies|March 10, 2019
De novo missense variant in the GTPase effector domain (GED) of <i>DNM1L</i> leads to static encephalopathy and seizuresNurit Assia Batzir, Pranjali K Bhagwat, Tanya N Eble, et al.
Pediatric Blood & Cancer|May 28, 2011
Folate pathway polymorphisms predict deficits in attention and processing speed after childhood leukemia therapyKala Y Kamdar, Kevin R Krull, Randa A El-Zein, et al.
American Journal of Medical Genetics. Part A|August 18, 2017
Clinical and molecular characterization of de novo loss of function variants in HNRNPUMagalie S Leduc, Hsiao-Tuan Chao, Chunjing Qu, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 3, 2006
Molecular bases of hearing loss in multi-systemic mitochondrial cytopathyFernando Scaglia, Chang-Hung Hsu, Haeyoung Kwon, et al.
Brain : a Journal of Neurology|March 1, 2022
Niacin therapy improves outcome and normalizes metabolic abnormalities in an NAXD-deficient patientJoshua Manor, Daniel G Calame, Charul Gijavanekar, et al.
American Journal of Medical Genetics. Part A|July 9, 2025
A Rare Molecular Diagnosis in a Patient With Hepatocerebral Syndrome Contributes to the Expansion of the Phenotypic Spectrum of POLG2-Related Mitochondrial DisorderVittoria Rossi, Dan Brooks, Hongzheng Dai, et al.
Pediatrics|October 7, 2004
Clinical spectrum, morbidity, and mortality in 113 pediatric patients with mitochondrial diseaseFernando Scaglia, Jeffrey A Towbin, William J Craigen, et al.
Human Mutation|March 7, 2013
Transition to next generation analysis of the whole mitochondrial genome: a summary of molecular defectsSha Tang, Jing Wang, Victor Wei Zhang, et al.
Molecular Genetics and Metabolism|November 24, 2019
Liver transplantation in propionic and methylmalonic acidemia: A single center study with literature reviewNishitha R Pillai, Bridget M Stroup, Anna Poliner, et al.
Molecular Genetics and Metabolism|March 23, 2025
Goal attainment in PMM2-CDG: A new approach measuring meaningful clinical outcomesSanne Verberkmoes, Gina L Mazza, Andrew C Edmondson, et al.
Pageof 19

Showing results (121-130 of 190) with videos related to

Sort By:
Pageof 19
Cold Spring Harbor Molecular Case Studies|March 10, 2019
De novo missense variant in the GTPase effector domain (GED) of <i>DNM1L</i> leads to static encephalopathy and seizuresNurit Assia Batzir, Pranjali K Bhagwat, Tanya N Eble, et al.
Pediatric Blood & Cancer|May 28, 2011
Folate pathway polymorphisms predict deficits in attention and processing speed after childhood leukemia therapyKala Y Kamdar, Kevin R Krull, Randa A El-Zein, et al.
American Journal of Medical Genetics. Part A|August 18, 2017
Clinical and molecular characterization of de novo loss of function variants in HNRNPUMagalie S Leduc, Hsiao-Tuan Chao, Chunjing Qu, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 3, 2006
Molecular bases of hearing loss in multi-systemic mitochondrial cytopathyFernando Scaglia, Chang-Hung Hsu, Haeyoung Kwon, et al.
Brain : a Journal of Neurology|March 1, 2022
Niacin therapy improves outcome and normalizes metabolic abnormalities in an NAXD-deficient patientJoshua Manor, Daniel G Calame, Charul Gijavanekar, et al.
American Journal of Medical Genetics. Part A|July 9, 2025
A Rare Molecular Diagnosis in a Patient With Hepatocerebral Syndrome Contributes to the Expansion of the Phenotypic Spectrum of POLG2-Related Mitochondrial DisorderVittoria Rossi, Dan Brooks, Hongzheng Dai, et al.
Pediatrics|October 7, 2004
Clinical spectrum, morbidity, and mortality in 113 pediatric patients with mitochondrial diseaseFernando Scaglia, Jeffrey A Towbin, William J Craigen, et al.
Human Mutation|March 7, 2013
Transition to next generation analysis of the whole mitochondrial genome: a summary of molecular defectsSha Tang, Jing Wang, Victor Wei Zhang, et al.
Molecular Genetics and Metabolism|November 24, 2019
Liver transplantation in propionic and methylmalonic acidemia: A single center study with literature reviewNishitha R Pillai, Bridget M Stroup, Anna Poliner, et al.
Molecular Genetics and Metabolism|March 23, 2025
Goal attainment in PMM2-CDG: A new approach measuring meaningful clinical outcomesSanne Verberkmoes, Gina L Mazza, Andrew C Edmondson, et al.
Pageof 19