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Fernando Scaglia

Showing results (81-90 of 190) with videos related to

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Molecular and Cellular Biology|November 2, 2005
Mitochondrial lipid abnormality and electron transport chain impairment in mice lacking alpha-synucleinChristopher E Ellis, Eric J Murphy, Drake C Mitchell, et al.
Human Mutation|June 25, 2010
Molecular spectrum of SLC22A5 (OCTN2) gene mutations detected in 143 subjects evaluated for systemic carnitine deficiencyFang-Yuan Li, Ayman W El-Hattab, Erawati V Bawle, et al.
Molecular Genetics and Metabolism Reports|October 11, 2014
Early Onset and Severe Clinical Course Associated with the m.5540G>A Mutation in <i>MT-TW.</i>Jorge L Granadillo, Timothy Moss, Richard A Lewis, et al.
American Journal of Medical Genetics. Part A|September 11, 2015
Corrigendum to "Improvement of regressive autism symptoms in a child with TMLHE deficiency following carnitine supplementation"Mark N Ziats, Matthew S Comeaux, Yaping Yang, et al.
Molecular Genetics and Metabolism|February 7, 2016
Impaired nitric oxide production in children with MELAS syndrome and the effect of arginine and citrulline supplementationAyman W El-Hattab, Lisa T Emrick, Jean W Hsu, et al.
American Journal of Medical Genetics. Part A|March 5, 2015
Novel de novo mutations in EFTUD2 detected by exome sequencing in mandibulofacial dysostosis with Microcephaly syndromeArindam Sarkar, Lisa T Emrick, Eboni M Smith, et al.
Molecular Genetics and Metabolism|July 12, 2017
Milder clinical and biochemical phenotypes associated with the c.482G>A (p.Arg161Gln) pathogenic variant in cobalamin C disease: Implications for management and screeningMohammed Almannai, Ronit Marom, Kristian Divin, et al.
American Journal of Medical Genetics. Part A|April 6, 2026
Developmental and Phenotypic Outcomes in Mild Phenylalanine Hydroxylase DeficiencyAaron Williams, Kristian Divin, Lindsay C Burrage, et al.
American Journal of Medical Genetics. Part A|March 9, 2019
Case report and novel treatment of an autosomal recessive Leigh syndrome caused by short-chain enoyl-CoA hydratase deficiencyBrian J Shayota, Claudia Soler-Alfonso, Mir Reza Bekheirnia, et al.
Liver Transplantation : Official Publication of the American Association for the Study of Liver Diseases and the International Liver Transplantation Society|October 1, 2008
Abnormal neurological features predict poor survival and should preclude liver transplantation in patients with deoxyguanosine kinase deficiencyDavid P Dimmock, J Kay Dunn, Annette Feigenbaum, et al.
Pageof 19

Showing results (81-90 of 190) with videos related to

Sort By:
Pageof 19
Molecular and Cellular Biology|November 2, 2005
Mitochondrial lipid abnormality and electron transport chain impairment in mice lacking alpha-synucleinChristopher E Ellis, Eric J Murphy, Drake C Mitchell, et al.
Human Mutation|June 25, 2010
Molecular spectrum of SLC22A5 (OCTN2) gene mutations detected in 143 subjects evaluated for systemic carnitine deficiencyFang-Yuan Li, Ayman W El-Hattab, Erawati V Bawle, et al.
Molecular Genetics and Metabolism Reports|October 11, 2014
Early Onset and Severe Clinical Course Associated with the m.5540G>A Mutation in <i>MT-TW.</i>Jorge L Granadillo, Timothy Moss, Richard A Lewis, et al.
American Journal of Medical Genetics. Part A|September 11, 2015
Corrigendum to "Improvement of regressive autism symptoms in a child with TMLHE deficiency following carnitine supplementation"Mark N Ziats, Matthew S Comeaux, Yaping Yang, et al.
Molecular Genetics and Metabolism|February 7, 2016
Impaired nitric oxide production in children with MELAS syndrome and the effect of arginine and citrulline supplementationAyman W El-Hattab, Lisa T Emrick, Jean W Hsu, et al.
American Journal of Medical Genetics. Part A|March 5, 2015
Novel de novo mutations in EFTUD2 detected by exome sequencing in mandibulofacial dysostosis with Microcephaly syndromeArindam Sarkar, Lisa T Emrick, Eboni M Smith, et al.
Molecular Genetics and Metabolism|July 12, 2017
Milder clinical and biochemical phenotypes associated with the c.482G>A (p.Arg161Gln) pathogenic variant in cobalamin C disease: Implications for management and screeningMohammed Almannai, Ronit Marom, Kristian Divin, et al.
American Journal of Medical Genetics. Part A|April 6, 2026
Developmental and Phenotypic Outcomes in Mild Phenylalanine Hydroxylase DeficiencyAaron Williams, Kristian Divin, Lindsay C Burrage, et al.
American Journal of Medical Genetics. Part A|March 9, 2019
Case report and novel treatment of an autosomal recessive Leigh syndrome caused by short-chain enoyl-CoA hydratase deficiencyBrian J Shayota, Claudia Soler-Alfonso, Mir Reza Bekheirnia, et al.
Liver Transplantation : Official Publication of the American Association for the Study of Liver Diseases and the International Liver Transplantation Society|October 1, 2008
Abnormal neurological features predict poor survival and should preclude liver transplantation in patients with deoxyguanosine kinase deficiencyDavid P Dimmock, J Kay Dunn, Annette Feigenbaum, et al.
Pageof 19