Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Filters

C Borrone

Showing results (71-80 of 89) with videos related to

Pageof 9
Sort By:
Human Molecular Genetics|April 10, 1999
Alterations in the CSB gene in three Italian patients with the severe form of Cockayne syndrome (CS) but without clinical photosensitivityS Colella, T Nardo, D Mallery, et al.
American Journal of Medical Genetics|January 31, 1998
Retinitis pigmentosa, hypopituitarism, nephronophthisis, and mild skeletal dysplasia (RHYNS): a new syndrome?M Di Rocco, P Picco, A Arslanian, et al.
Journal of Inherited Metabolic Disease|January 1, 1986
Lymphoid cell lines as a model system for the study of Wolman's disease: enzymatic, metabolic and ultrastructural investigationsA Nègre, R Salvayre, A Maret, et al.
Clinical and Experimental Rheumatology|March 1, 1993
Cyclosporin A in the treatment of juvenile chronic arthritis and childhood polymyositis-dermatomyositis. Results of a preliminary studyV Pistoia, A Buoncompagni, R Scribanis, et al.
Journal of the Neurological Sciences|July 1, 1992
Hereditary motor and sensory neuropathy with deafness, mental retardation and absence of large myelinated fibersG L Mancardi, M Di Rocco, A Schenone, et al.
Journal of Inherited Metabolic Disease|January 1, 1982
Mucolipidosis IV, a sialolipidosis due to ganglioside sialidase deficiencyL Caimi, G Tettamanti, B Berra, et al.
Journal of Medical Genetics|September 1, 1996
Molecular basis of hereditary fructose intolerance in Italy: identification of two novel mutations in the aldolase B geneR Santamaria, S Tamasi, G Del Piano, et al.
The Journal of Rheumatology|March 7, 1998
Differences in tumor necrosis factor-alpha soluble receptor serum concentrations between patients with Henoch-Schönlein purpura and pediatric systemic lupus erythematosus: pathogenetic implicationsM Gattorno, P Picco, G Barbano, et al.
European Journal of Pediatrics|August 1, 1993
Diagnostic difficulties and positive therapeutic response in a patient with sinus histiocytosis with massive lymphadenopathyP Picco, A Buoncompagni, V Pistoia, et al.
Human Genetics|October 1, 1986
Xeroderma pigmentosum (complementation group D) mutation is present in patients affected by trichothiodystrophy with photosensitivityM Stefanini, P Lagomarsini, C F Arlett, et al.
Pageof 9

Showing results (71-80 of 89) with videos related to

Sort By:
Pageof 9
Human Molecular Genetics|April 10, 1999
Alterations in the CSB gene in three Italian patients with the severe form of Cockayne syndrome (CS) but without clinical photosensitivityS Colella, T Nardo, D Mallery, et al.
American Journal of Medical Genetics|January 31, 1998
Retinitis pigmentosa, hypopituitarism, nephronophthisis, and mild skeletal dysplasia (RHYNS): a new syndrome?M Di Rocco, P Picco, A Arslanian, et al.
Journal of Inherited Metabolic Disease|January 1, 1986
Lymphoid cell lines as a model system for the study of Wolman's disease: enzymatic, metabolic and ultrastructural investigationsA Nègre, R Salvayre, A Maret, et al.
Clinical and Experimental Rheumatology|March 1, 1993
Cyclosporin A in the treatment of juvenile chronic arthritis and childhood polymyositis-dermatomyositis. Results of a preliminary studyV Pistoia, A Buoncompagni, R Scribanis, et al.
Journal of the Neurological Sciences|July 1, 1992
Hereditary motor and sensory neuropathy with deafness, mental retardation and absence of large myelinated fibersG L Mancardi, M Di Rocco, A Schenone, et al.
Journal of Inherited Metabolic Disease|January 1, 1982
Mucolipidosis IV, a sialolipidosis due to ganglioside sialidase deficiencyL Caimi, G Tettamanti, B Berra, et al.
Journal of Medical Genetics|September 1, 1996
Molecular basis of hereditary fructose intolerance in Italy: identification of two novel mutations in the aldolase B geneR Santamaria, S Tamasi, G Del Piano, et al.
The Journal of Rheumatology|March 7, 1998
Differences in tumor necrosis factor-alpha soluble receptor serum concentrations between patients with Henoch-Schönlein purpura and pediatric systemic lupus erythematosus: pathogenetic implicationsM Gattorno, P Picco, G Barbano, et al.
European Journal of Pediatrics|August 1, 1993
Diagnostic difficulties and positive therapeutic response in a patient with sinus histiocytosis with massive lymphadenopathyP Picco, A Buoncompagni, V Pistoia, et al.
Human Genetics|October 1, 1986
Xeroderma pigmentosum (complementation group D) mutation is present in patients affected by trichothiodystrophy with photosensitivityM Stefanini, P Lagomarsini, C F Arlett, et al.
Pageof 9