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R Carrozzo

Showing results (71-80 of 76) with videos related to

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Human Mutation|July 20, 2001
Identification of novel RP2 mutations in a subset of X-linked retinitis pigmentosa families and prediction of new domainsM G Miano, F Testa, F Filippini, et al.
Autophagy|November 14, 2017
The Vici syndrome protein EPG5 regulates intracellular nucleic acid trafficking linking autophagy to innate and adaptive immunityE Piano Mortari, V Folgiero, V Marcellini, et al.
American Journal of Human Genetics|December 5, 1998
Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiencyV Tiranti, K Hoertnagel, R Carrozzo, et al.
Circulation|July 25, 2000
Deletion of a 5-cM region at chromosome 8p23 is associated with a spectrum of congenital heart defectsS Giglio, S L Graw, G Gimelli, et al.
Clinical Genetics|April 23, 2016
A novel mutation in NDUFB11 unveils a new clinical phenotype associated with lactic acidosis and sideroblastic anemiaA Torraco, M Bianchi, D Verrigni, et al.
Human Mutation|January 22, 2008
Clinical and molecular features of mitochondrial DNA depletion due to mutations in deoxyguanosine kinaseD P Dimmock, Q Zhang, C Dionisi-Vici, et al.
Pageof 8

Showing results (71-80 of 76) with videos related to

Sort By:
Pageof 8
You have reached the last page of results.This site can display upto 76 results.
Human Mutation|July 20, 2001
Identification of novel RP2 mutations in a subset of X-linked retinitis pigmentosa families and prediction of new domainsM G Miano, F Testa, F Filippini, et al.
Autophagy|November 14, 2017
The Vici syndrome protein EPG5 regulates intracellular nucleic acid trafficking linking autophagy to innate and adaptive immunityE Piano Mortari, V Folgiero, V Marcellini, et al.
American Journal of Human Genetics|December 5, 1998
Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiencyV Tiranti, K Hoertnagel, R Carrozzo, et al.
Circulation|July 25, 2000
Deletion of a 5-cM region at chromosome 8p23 is associated with a spectrum of congenital heart defectsS Giglio, S L Graw, G Gimelli, et al.
Clinical Genetics|April 23, 2016
A novel mutation in NDUFB11 unveils a new clinical phenotype associated with lactic acidosis and sideroblastic anemiaA Torraco, M Bianchi, D Verrigni, et al.
Human Mutation|January 22, 2008
Clinical and molecular features of mitochondrial DNA depletion due to mutations in deoxyguanosine kinaseD P Dimmock, Q Zhang, C Dionisi-Vici, et al.
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