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R Carrozzo

Showing results (51-60 of 76) with videos related to

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Japanese Heart Journal|January 1, 1993
Hypertrophic cardiomyopathy with mitochondrial myopathy. A new phenotype of complex II defectC Angelini, P Melacini, M L Valente, et al.
American Journal of Medical Genetics|April 5, 2000
Novel 7-DHCR mutation in a child with Smith-Lemli-Opitz syndromeC Patrono, C Rizzo, A Tessa, et al.
Human Molecular Genetics|February 1, 1994
Olfactory receptor gene cluster on human chromosome 17: possible duplication of an ancestral receptor repertoireN Ben-Arie, D Lancet, C Taylor, et al.
Brain : a Journal of Neurology|November 10, 2001
Autosomal dominant cortical myoclonus and epilepsy (ADCME) with complex partial and generalized seizures: A newly recognized epilepsy syndrome with linkage to chromosome 2p11.1-q12.2R Guerrini, P Bonanni, A Patrignani, et al.
Neuromuscular Disorders : NMD|December 4, 2001
Hypertrophic cardiomyopathy and mtDNA depletion. Successful treatment with heart transplantationF M Santorelli, M G Gagliardi, C Dionisi-Vici, et al.
Pediatric Research|November 14, 1997
Deficient muscle carnitine transport in primary carnitine deficiencyR Pons, R Carrozzo, I Tein, et al.
Genomics|January 1, 1989
Molecular heterogeneity of steroid sulfatase deficiency: a multicenter study on 57 unrelated patients, at DNA and protein levelsA Ballabio, R Carrozzo, G Parenti, et al.
Journal of Inherited Metabolic Disease|September 19, 2007
Effect of 'attenuated' mutations in mucopolysaccharidosis IVA on molecular phenotypes of N-acetylgalactosamine-6-sulfate sulfataseA M Montaño, K Sukegawa, Z Kato, et al.
Clinical Genetics|November 29, 2016
Novel mutations in KARS cause hypertrophic cardiomyopathy and combined mitochondrial respiratory chain defectD Verrigni, D Diodato, M Di Nottia, et al.
Genomics|May 23, 1998
The human ROX gene: genomic structure and mutation analysis in human breast tumorsC Lo Nigro, T Venesio, A Reymond, et al.
Pageof 8

Showing results (51-60 of 76) with videos related to

Sort By:
Pageof 8
Japanese Heart Journal|January 1, 1993
Hypertrophic cardiomyopathy with mitochondrial myopathy. A new phenotype of complex II defectC Angelini, P Melacini, M L Valente, et al.
American Journal of Medical Genetics|April 5, 2000
Novel 7-DHCR mutation in a child with Smith-Lemli-Opitz syndromeC Patrono, C Rizzo, A Tessa, et al.
Human Molecular Genetics|February 1, 1994
Olfactory receptor gene cluster on human chromosome 17: possible duplication of an ancestral receptor repertoireN Ben-Arie, D Lancet, C Taylor, et al.
Brain : a Journal of Neurology|November 10, 2001
Autosomal dominant cortical myoclonus and epilepsy (ADCME) with complex partial and generalized seizures: A newly recognized epilepsy syndrome with linkage to chromosome 2p11.1-q12.2R Guerrini, P Bonanni, A Patrignani, et al.
Neuromuscular Disorders : NMD|December 4, 2001
Hypertrophic cardiomyopathy and mtDNA depletion. Successful treatment with heart transplantationF M Santorelli, M G Gagliardi, C Dionisi-Vici, et al.
Pediatric Research|November 14, 1997
Deficient muscle carnitine transport in primary carnitine deficiencyR Pons, R Carrozzo, I Tein, et al.
Genomics|January 1, 1989
Molecular heterogeneity of steroid sulfatase deficiency: a multicenter study on 57 unrelated patients, at DNA and protein levelsA Ballabio, R Carrozzo, G Parenti, et al.
Journal of Inherited Metabolic Disease|September 19, 2007
Effect of 'attenuated' mutations in mucopolysaccharidosis IVA on molecular phenotypes of N-acetylgalactosamine-6-sulfate sulfataseA M Montaño, K Sukegawa, Z Kato, et al.
Clinical Genetics|November 29, 2016
Novel mutations in KARS cause hypertrophic cardiomyopathy and combined mitochondrial respiratory chain defectD Verrigni, D Diodato, M Di Nottia, et al.
Genomics|May 23, 1998
The human ROX gene: genomic structure and mutation analysis in human breast tumorsC Lo Nigro, T Venesio, A Reymond, et al.
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