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R Carrozzo

Showing results (31-40 of 76) with videos related to

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Clinical Genetics|July 1, 1988
X/Y translocation in a family with X-linked ichthyosis, chondrodysplasia punctata, and mental retardation: DNA analysis reveals deletion of the steroid sulphatase gene and translocation of its Y pseudogeneA Ballabio, G Parenti, R Carrozzo, et al.
Genomics|July 1, 1992
Sequence analysis of a partial deletion of the human steroid sulfatase gene reveals 3 bp of homology at deletion breakpointsL F Bernatowicz, X M Li, R Carrozzo, et al.
Genomics|January 1, 1992
Isolation and characterization of a yeast artificial chromosome (YAC) contig around the human steroid sulfatase geneR Carrozzo, J Ellison, P Yen, et al.
Nature|August 19, 1993
Isolation of a Miller-Dieker lissencephaly gene containing G protein beta-subunit-like repeatsO Reiner, R Carrozzo, Y Shen, et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology|May 31, 2001
A novel mtDNA mutation in the ATPase6 gene studied by E. coli modelingR Carrozzo, J Murray, O Capuano, et al.
Journal of the Neurological Sciences|December 1, 1992
Correlation between clinical and molecular features in two MELAS familiesA Martinuzzi, L Bartolomei, R Carrozzo, et al.
Proceedings of the National Academy of Sciences of the United States of America|July 1, 1987
Isolation and characterization of a steroid sulfatase cDNA clone: genomic deletions in patients with X-chromosome-linked ichthyosisA Ballabio, G Parenti, R Carrozzo, et al.
Neuromuscular Disorders : NMD|July 19, 2000
A novel SURF1 mutation results in Leigh syndrome with peripheral neuropathy caused by cytochrome c oxidase deficiencyL Santoro, R Carrozzo, A Malandrini, et al.
European Journal of Clinical Investigation|December 12, 2001
Glutathione in blood of patients with Friedreich's ataxiaF Piemonte, A Pastore, G Tozzi, et al.
Cytogenetics and Cell Genetics|November 27, 1999
Identification of two paralogous regions mapping to the short and long arms of human chromosome 2 comprising LIS1 pseudogenesA Fogli, S Giglio, G Arrigo, et al.
Pageof 8

Showing results (31-40 of 76) with videos related to

Sort By:
Pageof 8
Clinical Genetics|July 1, 1988
X/Y translocation in a family with X-linked ichthyosis, chondrodysplasia punctata, and mental retardation: DNA analysis reveals deletion of the steroid sulphatase gene and translocation of its Y pseudogeneA Ballabio, G Parenti, R Carrozzo, et al.
Genomics|July 1, 1992
Sequence analysis of a partial deletion of the human steroid sulfatase gene reveals 3 bp of homology at deletion breakpointsL F Bernatowicz, X M Li, R Carrozzo, et al.
Genomics|January 1, 1992
Isolation and characterization of a yeast artificial chromosome (YAC) contig around the human steroid sulfatase geneR Carrozzo, J Ellison, P Yen, et al.
Nature|August 19, 1993
Isolation of a Miller-Dieker lissencephaly gene containing G protein beta-subunit-like repeatsO Reiner, R Carrozzo, Y Shen, et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology|May 31, 2001
A novel mtDNA mutation in the ATPase6 gene studied by E. coli modelingR Carrozzo, J Murray, O Capuano, et al.
Journal of the Neurological Sciences|December 1, 1992
Correlation between clinical and molecular features in two MELAS familiesA Martinuzzi, L Bartolomei, R Carrozzo, et al.
Proceedings of the National Academy of Sciences of the United States of America|July 1, 1987
Isolation and characterization of a steroid sulfatase cDNA clone: genomic deletions in patients with X-chromosome-linked ichthyosisA Ballabio, G Parenti, R Carrozzo, et al.
Neuromuscular Disorders : NMD|July 19, 2000
A novel SURF1 mutation results in Leigh syndrome with peripheral neuropathy caused by cytochrome c oxidase deficiencyL Santoro, R Carrozzo, A Malandrini, et al.
European Journal of Clinical Investigation|December 12, 2001
Glutathione in blood of patients with Friedreich's ataxiaF Piemonte, A Pastore, G Tozzi, et al.
Cytogenetics and Cell Genetics|November 27, 1999
Identification of two paralogous regions mapping to the short and long arms of human chromosome 2 comprising LIS1 pseudogenesA Fogli, S Giglio, G Arrigo, et al.
Pageof 8