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E Bertini

Showing results (31-40 of 205) with videos related to

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Nature|May 25, 1989
An autosomal dominant disorder with multiple deletions of mitochondrial DNA starting at the D-loop regionM Zeviani, S Servidei, C Gellera, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|January 1, 1992
Bilateral striatal necrosis, dystonia and optic atrophy in two siblingsV Leuzzi, E Bertini, A M De Negri, et al.
Acta Neuropathologica|January 1, 1992
Giant axonal neuropathy: report on a case with focal fiber lossM Sabatelli, E Bertini, S Servidei, et al.
American Journal of Obstetrics and Gynecology|January 1, 1989
Reduced serum inhibition of platelet-activating factor activity in preeclampsiaC Benedetto, M Massobrio, E Bertini, et al.
Human Mutation|October 23, 2001
Seven novel mutations in the ORNT1 gene (SLC25A15) in patients with hyperornithinemia, hyperammonemia, and homocitrullinuria syndromeS Salvi, C Dionisi-Vici, E Bertini, et al.
Neurology|June 9, 2004
Incomplete penetrance in an SPG3A-linked family with a new mutation in the atlastin geneA D'Amico, A Tessa, A Sabino, et al.
Giornale Italiano Di Cardiologia|May 1, 1997
Restrictive cardiomyopathy due to desmin accumulation in a family with evidence of autosomal dominant inheritanceE Zachara, E Bertini, E Lioy, et al.
Medical and Pediatric Oncology|July 6, 2000
Pierre Robin syndrome and Wilms tumor: an unusual associationF D Camassei, A Jenkner, E Bertini, et al.
Human Heredity|December 22, 1998
A novel mutation (R271X) in the myotubularin gene causes a severe miotubular myopathyA De Luca, I Torrente, M Mangino, et al.
Acta Paediatrica (Oslo, Norway : 1992). Supplement|June 5, 2004
A mitochondrial ATPase 6 mutation is associated with Leigh syndrome in a family and affects proton flow and adenosine triphosphate output when modeled in Escherichia coliR Carrozzo, T Rizza, S Lucioli, et al.
Pageof 21

Showing results (31-40 of 205) with videos related to

Sort By:
Pageof 21
Nature|May 25, 1989
An autosomal dominant disorder with multiple deletions of mitochondrial DNA starting at the D-loop regionM Zeviani, S Servidei, C Gellera, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|January 1, 1992
Bilateral striatal necrosis, dystonia and optic atrophy in two siblingsV Leuzzi, E Bertini, A M De Negri, et al.
Acta Neuropathologica|January 1, 1992
Giant axonal neuropathy: report on a case with focal fiber lossM Sabatelli, E Bertini, S Servidei, et al.
American Journal of Obstetrics and Gynecology|January 1, 1989
Reduced serum inhibition of platelet-activating factor activity in preeclampsiaC Benedetto, M Massobrio, E Bertini, et al.
Human Mutation|October 23, 2001
Seven novel mutations in the ORNT1 gene (SLC25A15) in patients with hyperornithinemia, hyperammonemia, and homocitrullinuria syndromeS Salvi, C Dionisi-Vici, E Bertini, et al.
Neurology|June 9, 2004
Incomplete penetrance in an SPG3A-linked family with a new mutation in the atlastin geneA D'Amico, A Tessa, A Sabino, et al.
Giornale Italiano Di Cardiologia|May 1, 1997
Restrictive cardiomyopathy due to desmin accumulation in a family with evidence of autosomal dominant inheritanceE Zachara, E Bertini, E Lioy, et al.
Medical and Pediatric Oncology|July 6, 2000
Pierre Robin syndrome and Wilms tumor: an unusual associationF D Camassei, A Jenkner, E Bertini, et al.
Human Heredity|December 22, 1998
A novel mutation (R271X) in the myotubularin gene causes a severe miotubular myopathyA De Luca, I Torrente, M Mangino, et al.
Acta Paediatrica (Oslo, Norway : 1992). Supplement|June 5, 2004
A mitochondrial ATPase 6 mutation is associated with Leigh syndrome in a family and affects proton flow and adenosine triphosphate output when modeled in Escherichia coliR Carrozzo, T Rizza, S Lucioli, et al.
Pageof 21