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Frederic Tort

Showing results (1-10 of 47) with videos related to

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Clinical and Translational Medicine|June 9, 2022
HACE1 builds molecular crosstalks between rare diseases and (more) common disordersFrederic Tort
Journal of Inherited Metabolic Disease|September 3, 2016
Differential diagnosis of lipoic acid synthesis defectsFrederic Tort, Xènia Ferrer-Cortes, Antonia Ribes
Human Pathology|August 7, 2004
Heterogeneity of genomic breakpoints in MSN-ALK translocations in anaplastic large cell lymphomaFrederic Tort, Elias Campo, Brad Pohlman, et al.
Journal of Inherited Metabolic Disease|April 30, 2014
Lipoic acid biosynthesis defectsJohannes A Mayr, René G Feichtinger, Frederic Tort, et al.
Cancer Research|November 3, 2006
Retinoblastoma pathway defects show differential ability to activate the constitutive DNA damage response in human tumorigenesisFrederic Tort, Jirina Bartkova, Maxwell Sehested, et al.
Haematologica|March 17, 2004
Familial lymphoid neoplasms in patients with mantle cell lymphomaFrederic Tort, Emma Camacho, Francesc Bosch, et al.
Journal of Inherited Metabolic Disease|July 24, 2010
Dihydrolipoamide dehydrogenase (DLD) deficiency in a Spanish patient with myopathic presentation due to a new mutation in the interface domainEster Quintana, Mercé Pineda, Aida Font, et al.
Pediatrics|December 13, 2016
Lysine Restriction and Pyridoxal Phosphate Administration in a NADK2 PatientFrederic Tort, Olatz Ugarteburu, Maria Angeles Torres, et al.
JIMD Reports|February 23, 2013
Quantitative Analysis of mtDNA Content in Formalin-Fixed Paraffin-Embedded Muscle TissueAida Font, Frederic Tort, Aleix Navarro-Sastre, et al.
Mitochondrion|September 19, 2020
Complex I deficiency, due to NDUFAF4 mutations, causes severe mitochondrial dysfunction and is associated to early death and dysmorphiaOlatz Ugarteburu, Maria Teresa Garcia-Silva, Luis Aldamiz-Echevarria, et al.
Pageof 5

Showing results (1-10 of 47) with videos related to

Sort By:
Pageof 5
Clinical and Translational Medicine|June 9, 2022
HACE1 builds molecular crosstalks between rare diseases and (more) common disordersFrederic Tort
Journal of Inherited Metabolic Disease|September 3, 2016
Differential diagnosis of lipoic acid synthesis defectsFrederic Tort, Xènia Ferrer-Cortes, Antonia Ribes
Human Pathology|August 7, 2004
Heterogeneity of genomic breakpoints in MSN-ALK translocations in anaplastic large cell lymphomaFrederic Tort, Elias Campo, Brad Pohlman, et al.
Journal of Inherited Metabolic Disease|April 30, 2014
Lipoic acid biosynthesis defectsJohannes A Mayr, René G Feichtinger, Frederic Tort, et al.
Cancer Research|November 3, 2006
Retinoblastoma pathway defects show differential ability to activate the constitutive DNA damage response in human tumorigenesisFrederic Tort, Jirina Bartkova, Maxwell Sehested, et al.
Haematologica|March 17, 2004
Familial lymphoid neoplasms in patients with mantle cell lymphomaFrederic Tort, Emma Camacho, Francesc Bosch, et al.
Journal of Inherited Metabolic Disease|July 24, 2010
Dihydrolipoamide dehydrogenase (DLD) deficiency in a Spanish patient with myopathic presentation due to a new mutation in the interface domainEster Quintana, Mercé Pineda, Aida Font, et al.
Pediatrics|December 13, 2016
Lysine Restriction and Pyridoxal Phosphate Administration in a NADK2 PatientFrederic Tort, Olatz Ugarteburu, Maria Angeles Torres, et al.
JIMD Reports|February 23, 2013
Quantitative Analysis of mtDNA Content in Formalin-Fixed Paraffin-Embedded Muscle TissueAida Font, Frederic Tort, Aleix Navarro-Sastre, et al.
Mitochondrion|September 19, 2020
Complex I deficiency, due to NDUFAF4 mutations, causes severe mitochondrial dysfunction and is associated to early death and dysmorphiaOlatz Ugarteburu, Maria Teresa Garcia-Silva, Luis Aldamiz-Echevarria, et al.
Pageof 5