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Showing results (131-140 of 157) with videos related to

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Human Molecular Genetics|April 18, 2000
A mutation in the human heme A:farnesyltransferase gene (COX10 ) causes cytochrome c oxidase deficiencyI Valnot, J C von Kleist-Retzow, A Barrientos, et al.
American Journal of Medical Genetics|July 23, 1998
Clinical homogeneity of the Stüve-Wiedemann syndrome and overlap with the Schwartz-Jampel syndrome type 2V Cormier-Daire, A Superti-Furga, A Munnich, et al.
Molecular Genetics and Metabolism|November 3, 2005
Deoxyguanosine kinase mutations and combined deficiencies of the mitochondrial respiratory chain in patients with hepatic involvementA Slama, I Giurgea, D Debrey, et al.
Journal of Inherited Metabolic Disease|August 1, 1998
Persistent hypocitrullinaemia as a marker for mtDNA NARP T 8993 G mutation?D Rabier, C Diry, A Rotig, et al.
Journal of Medical Entomology|September 2, 2023
Invasive Haemaphysalis longicornis (Acari: Ixodidae) investigation in South Carolina: new records of establishment, pathogen prevalence, and blood meal analysesKyndall C Dye-Braumuller, Lídia Gual-Gonzalez, Titi Abiodun, et al.
European Journal of Pediatrics|February 9, 1999
The neurogenic weakness, ataxia and retinitis pigmentosa (NARP) syndrome mtDNA mutation (T8993G) triggers muscle ATPase deficiency and hypocitrullinaemiaB Parfait, P de Lonlay, J C von Kleist-Retzow, et al.
Journal of Hepatology|September 1, 1995
Mitochondrial respiratory chain defect: a new etiology for neonatal cholestasis and early liver insufficiencyI Goncalves, D Hermans, D Chretien, et al.
Journal of Medical Genetics|April 6, 2001
Mutations in SURF1 are not specifically associated with Leigh syndromeJ C Von Kleist-Retzow, J Yao, J W Taanman, et al.
Prenatal Diagnosis|October 4, 2000
Determination of enzyme activities for prenatal diagnosis of respiratory chain deficiencyL Faivre, V Cormier-Daire, D Chrétien, et al.
Journal of Medical Genetics|December 20, 2003
Recurrent de novo mitochondrial DNA mutations in respiratory chain deficiencyS Lebon, M Chol, P Benit, et al.
Pageof 16

Showing results (131-140 of 157) with videos related to

Sort By:
Pageof 16
Human Molecular Genetics|April 18, 2000
A mutation in the human heme A:farnesyltransferase gene (COX10 ) causes cytochrome c oxidase deficiencyI Valnot, J C von Kleist-Retzow, A Barrientos, et al.
American Journal of Medical Genetics|July 23, 1998
Clinical homogeneity of the Stüve-Wiedemann syndrome and overlap with the Schwartz-Jampel syndrome type 2V Cormier-Daire, A Superti-Furga, A Munnich, et al.
Molecular Genetics and Metabolism|November 3, 2005
Deoxyguanosine kinase mutations and combined deficiencies of the mitochondrial respiratory chain in patients with hepatic involvementA Slama, I Giurgea, D Debrey, et al.
Journal of Inherited Metabolic Disease|August 1, 1998
Persistent hypocitrullinaemia as a marker for mtDNA NARP T 8993 G mutation?D Rabier, C Diry, A Rotig, et al.
Journal of Medical Entomology|September 2, 2023
Invasive Haemaphysalis longicornis (Acari: Ixodidae) investigation in South Carolina: new records of establishment, pathogen prevalence, and blood meal analysesKyndall C Dye-Braumuller, Lídia Gual-Gonzalez, Titi Abiodun, et al.
European Journal of Pediatrics|February 9, 1999
The neurogenic weakness, ataxia and retinitis pigmentosa (NARP) syndrome mtDNA mutation (T8993G) triggers muscle ATPase deficiency and hypocitrullinaemiaB Parfait, P de Lonlay, J C von Kleist-Retzow, et al.
Journal of Hepatology|September 1, 1995
Mitochondrial respiratory chain defect: a new etiology for neonatal cholestasis and early liver insufficiencyI Goncalves, D Hermans, D Chretien, et al.
Journal of Medical Genetics|April 6, 2001
Mutations in SURF1 are not specifically associated with Leigh syndromeJ C Von Kleist-Retzow, J Yao, J W Taanman, et al.
Prenatal Diagnosis|October 4, 2000
Determination of enzyme activities for prenatal diagnosis of respiratory chain deficiencyL Faivre, V Cormier-Daire, D Chrétien, et al.
Journal of Medical Genetics|December 20, 2003
Recurrent de novo mitochondrial DNA mutations in respiratory chain deficiencyS Lebon, M Chol, P Benit, et al.
Pageof 16