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R Carrozzo

Showing results (41-50 of 76) with videos related to

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Metabolism: Clinical and Experimental|November 1, 1990
Early signs of vascular disease in homocystinuria: a noninvasive study by ultrasound methods in eight families with cystathionine-beta-synthase deficiencyP Rubba, F Faccenda, P Pauciullo, et al.
Annals of Neurology|March 11, 1999
Autosomal recessive rolandic epilepsy with paroxysmal exercise-induced dystonia and writer's cramp: delineation of the syndrome and gene mapping to chromosome 16p12-11.2R Guerrini, P Bonanni, N Nardocci, et al.
Neurology|January 27, 1998
Multiple mtDNA deletions features in autosomal dominant and recessive diseases suggest distinct pathogenesesR Carrozzo, M Hirano, B Fromenty, et al.
Neuromuscular Disorders : NMD|January 1, 1992
Variability of the expression of muscle mitochondrial damage in ocular mitochondrial myopathyG Siciliano, B Rossi, C Angelini, et al.
Genomics|November 20, 1995
LIS2, gene and pseudogene, homologous to LIS1 (lissencephaly 1), located on the short and long arms of chromosome 2O Reiner, I Bar-Am, T Sapir, et al.
European Journal of Human Genetics : EJHG|March 14, 2000
Opposite deletions/duplications of the X chromosome: two novel reciprocal rearrangementsS Giglio, B Pirola, G Arrigo, et al.
Neuromuscular Disorders : NMD|May 1, 1997
Mitochondrial tRNA(Cys) gene mutation (A5814G): a second family with mitochondrial encephalopathyF M Santorelli, G Siciliano, C Casali, et al.
Annals of Human Genetics|January 1, 1989
Molecular characterization of human X/Y translocations suggests their aetiology through aberrant exchange between homologous sequences on Xp and YqA Ballabio, R Carrozzo, A Gil, et al.
Proceedings of the National Academy of Sciences of the United States of America|December 1, 1989
Contiguous gene syndromes due to deletions in the distal short arm of the human X chromosomeA Ballabio, B Bardoni, R Carrozzo, et al.
Human Molecular Genetics|February 1, 1997
A revision of the lissencephaly and Miller-Dieker syndrome critical regions in chromosome 17p13.3S S Chong, S D Pack, A V Roschke, et al.
Pageof 8

Showing results (41-50 of 76) with videos related to

Sort By:
Pageof 8
Metabolism: Clinical and Experimental|November 1, 1990
Early signs of vascular disease in homocystinuria: a noninvasive study by ultrasound methods in eight families with cystathionine-beta-synthase deficiencyP Rubba, F Faccenda, P Pauciullo, et al.
Annals of Neurology|March 11, 1999
Autosomal recessive rolandic epilepsy with paroxysmal exercise-induced dystonia and writer's cramp: delineation of the syndrome and gene mapping to chromosome 16p12-11.2R Guerrini, P Bonanni, N Nardocci, et al.
Neurology|January 27, 1998
Multiple mtDNA deletions features in autosomal dominant and recessive diseases suggest distinct pathogenesesR Carrozzo, M Hirano, B Fromenty, et al.
Neuromuscular Disorders : NMD|January 1, 1992
Variability of the expression of muscle mitochondrial damage in ocular mitochondrial myopathyG Siciliano, B Rossi, C Angelini, et al.
Genomics|November 20, 1995
LIS2, gene and pseudogene, homologous to LIS1 (lissencephaly 1), located on the short and long arms of chromosome 2O Reiner, I Bar-Am, T Sapir, et al.
European Journal of Human Genetics : EJHG|March 14, 2000
Opposite deletions/duplications of the X chromosome: two novel reciprocal rearrangementsS Giglio, B Pirola, G Arrigo, et al.
Neuromuscular Disorders : NMD|May 1, 1997
Mitochondrial tRNA(Cys) gene mutation (A5814G): a second family with mitochondrial encephalopathyF M Santorelli, G Siciliano, C Casali, et al.
Annals of Human Genetics|January 1, 1989
Molecular characterization of human X/Y translocations suggests their aetiology through aberrant exchange between homologous sequences on Xp and YqA Ballabio, R Carrozzo, A Gil, et al.
Proceedings of the National Academy of Sciences of the United States of America|December 1, 1989
Contiguous gene syndromes due to deletions in the distal short arm of the human X chromosomeA Ballabio, B Bardoni, R Carrozzo, et al.
Human Molecular Genetics|February 1, 1997
A revision of the lissencephaly and Miller-Dieker syndrome critical regions in chromosome 17p13.3S S Chong, S D Pack, A V Roschke, et al.
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