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Fernando Scaglia

Showing results (91-100 of 190) with videos related to

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Molecular Genetics and Metabolism|April 12, 2011
Deoxyguanosine kinase deficiency presenting as neonatal hemochromatosisNeil A Hanchard, Oleg A Shchelochkov, Angshumoy Roy, et al.
Molecular Genetics and Metabolism|March 19, 2011
Atypical presentation of Leigh syndrome associated with a Leber hereditary optic neuropathy primary mitochondrial DNA mutationGary Fruhman, Megan L Landsverk, Timothy E Lotze, et al.
Archives of Dermatology|March 19, 2008
Self-healing collodion membrane and mild nonbullous congenital ichthyosiform erythroderma due to 2 novel mutations in the ALOX12B geneMandy Harting, Nicola Brunetti-Pierri, C Stanley Chan, et al.
Brain Communications|June 19, 2026
Efficacy and safety of pyrimidine nucleos(t)ide therapy in thymidine kinase 2 deficiencyMichio Hirano, Caterina Garone, Richard Haas, et al.
Data in Brief|February 20, 2020
Sequencing data of cell-free DNA fragments in living-related liver transplantation for inborn errors of metabolismXiaofan Zhu, Hoi Ioi Ng, Liming Xuan, et al.
Clinical Chemistry|May 20, 2008
Utility of oligonucleotide array-based comparative genomic hybridization for detection of target gene deletionsLee-Jun C Wong, David Dimmock, Michael T Geraghty, et al.
Human Molecular Genetics|March 3, 2016
Missense variants in the middle domain of DNM1L in cases of infantile encephalopathy alter peroxisomes and mitochondria when assayed in DrosophilaYu-Hsin Chao, Laurie A Robak, Fan Xia, et al.
Molecular Genetics and Metabolism|April 28, 2019
Analysis of fragment size distribution of cell-free DNA: A potential non-invasive marker to monitor graft damage in living-related liver transplantation for inborn errors of metabolismHoi Ioi Ng, Xiaofan Zhu, Liming Xuan, et al.
Molecular Genetics and Metabolism|March 17, 2011
Dilation of the aortic root in mitochondrial disease patientsNicola Brunetti-Pierri, Ricardo Pignatelli, Negin Fouladi, et al.
American Journal of Medical Genetics. Part A|June 15, 2011
Desmosterolosis-phenotypic and molecular characterization of a third case and review of the literatureChristian P Schaaf, Janet Koster, Panagiotis Katsonis, et al.
Pageof 19

Showing results (91-100 of 190) with videos related to

Sort By:
Pageof 19
Molecular Genetics and Metabolism|April 12, 2011
Deoxyguanosine kinase deficiency presenting as neonatal hemochromatosisNeil A Hanchard, Oleg A Shchelochkov, Angshumoy Roy, et al.
Molecular Genetics and Metabolism|March 19, 2011
Atypical presentation of Leigh syndrome associated with a Leber hereditary optic neuropathy primary mitochondrial DNA mutationGary Fruhman, Megan L Landsverk, Timothy E Lotze, et al.
Archives of Dermatology|March 19, 2008
Self-healing collodion membrane and mild nonbullous congenital ichthyosiform erythroderma due to 2 novel mutations in the ALOX12B geneMandy Harting, Nicola Brunetti-Pierri, C Stanley Chan, et al.
Brain Communications|June 19, 2026
Efficacy and safety of pyrimidine nucleos(t)ide therapy in thymidine kinase 2 deficiencyMichio Hirano, Caterina Garone, Richard Haas, et al.
Data in Brief|February 20, 2020
Sequencing data of cell-free DNA fragments in living-related liver transplantation for inborn errors of metabolismXiaofan Zhu, Hoi Ioi Ng, Liming Xuan, et al.
Clinical Chemistry|May 20, 2008
Utility of oligonucleotide array-based comparative genomic hybridization for detection of target gene deletionsLee-Jun C Wong, David Dimmock, Michael T Geraghty, et al.
Human Molecular Genetics|March 3, 2016
Missense variants in the middle domain of DNM1L in cases of infantile encephalopathy alter peroxisomes and mitochondria when assayed in DrosophilaYu-Hsin Chao, Laurie A Robak, Fan Xia, et al.
Molecular Genetics and Metabolism|April 28, 2019
Analysis of fragment size distribution of cell-free DNA: A potential non-invasive marker to monitor graft damage in living-related liver transplantation for inborn errors of metabolismHoi Ioi Ng, Xiaofan Zhu, Liming Xuan, et al.
Molecular Genetics and Metabolism|March 17, 2011
Dilation of the aortic root in mitochondrial disease patientsNicola Brunetti-Pierri, Ricardo Pignatelli, Negin Fouladi, et al.
American Journal of Medical Genetics. Part A|June 15, 2011
Desmosterolosis-phenotypic and molecular characterization of a third case and review of the literatureChristian P Schaaf, Janet Koster, Panagiotis Katsonis, et al.
Pageof 19