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

G Sebastio

Showing results (31-40 of 67) with videos related to

Pageof 7
Sort By:
Human Genetics|December 1, 1987
Deletions of the steroid sulphatase gene in "classical" X-linked ichthyosis and in X-linked ichthyosis associated with Kallmann syndromeA Ballabio, G Sebastio, R Carrozzo, et al.
American Journal of Human Genetics|June 1, 1995
The molecular basis of homocystinuria due to cystathionine beta-synthase deficiency in Italian families, and report of four novel mutationsG Sebastio, M P Sperandeo, M Panico, et al.
Clinical Genetics|February 27, 2004
Alström syndrome: intrafamilial phenotypic variability in sibs with a novel nonsense mutation of the ALMS1 geneL Titomanlio, D De Brasi, A Buoninconti, et al.
The EMBO Journal|August 1, 1987
Transformed human cells produce a new fibronectin isoform by preferential alternative splicing of a previously unobserved exonL Zardi, B Carnemolla, A Siri, et al.
Human Genetics|October 1, 1995
Analysis of the elastin gene in 60 patients with clinical diagnosis of Williams syndromeA Mari, F Amati, R Mingarelli, et al.
Journal of Medical Genetics|June 1, 1996
Molecular epidemiology of cystic fibrosis mutations and haplotypes in southern Italy evaluated with an improved semiautomated robotic procedureG Castaldo, E Rippa, G Sebastio, et al.
American Journal of Medical Genetics|December 18, 2001
Inv dup del (1)(pter-->q44::q44-->q42:) with the classical phenotype of trisomy 1q42-qterD De Brasi, E Rossi, S Giglio, et al.
Journal of Medical Genetics|June 3, 1999
Cloverleaf skull anomaly and de novo trisomy 4pD de Brasi, L Perone, P di Micco, et al.
Thrombosis and Haemostasis|November 1, 2000
Contribution of the cystathionine beta-synthase gene (844ins68) polymorphism to the risk of early-onset venous and arterial occlusive disease and of fasting hyperhomocysteinemiaR de Franchis, I Fermo, G Mazzola, et al.
American Journal of Human Genetics|October 1, 1989
Control of lactase in human adult-type hypolactasia and in weaning rabbits and ratsG Sebastio, M Villa, R Sartorio, et al.
Pageof 7

Showing results (31-40 of 67) with videos related to

Sort By:
Pageof 7
Human Genetics|December 1, 1987
Deletions of the steroid sulphatase gene in "classical" X-linked ichthyosis and in X-linked ichthyosis associated with Kallmann syndromeA Ballabio, G Sebastio, R Carrozzo, et al.
American Journal of Human Genetics|June 1, 1995
The molecular basis of homocystinuria due to cystathionine beta-synthase deficiency in Italian families, and report of four novel mutationsG Sebastio, M P Sperandeo, M Panico, et al.
Clinical Genetics|February 27, 2004
Alström syndrome: intrafamilial phenotypic variability in sibs with a novel nonsense mutation of the ALMS1 geneL Titomanlio, D De Brasi, A Buoninconti, et al.
The EMBO Journal|August 1, 1987
Transformed human cells produce a new fibronectin isoform by preferential alternative splicing of a previously unobserved exonL Zardi, B Carnemolla, A Siri, et al.
Human Genetics|October 1, 1995
Analysis of the elastin gene in 60 patients with clinical diagnosis of Williams syndromeA Mari, F Amati, R Mingarelli, et al.
Journal of Medical Genetics|June 1, 1996
Molecular epidemiology of cystic fibrosis mutations and haplotypes in southern Italy evaluated with an improved semiautomated robotic procedureG Castaldo, E Rippa, G Sebastio, et al.
American Journal of Medical Genetics|December 18, 2001
Inv dup del (1)(pter-->q44::q44-->q42:) with the classical phenotype of trisomy 1q42-qterD De Brasi, E Rossi, S Giglio, et al.
Journal of Medical Genetics|June 3, 1999
Cloverleaf skull anomaly and de novo trisomy 4pD de Brasi, L Perone, P di Micco, et al.
Thrombosis and Haemostasis|November 1, 2000
Contribution of the cystathionine beta-synthase gene (844ins68) polymorphism to the risk of early-onset venous and arterial occlusive disease and of fasting hyperhomocysteinemiaR de Franchis, I Fermo, G Mazzola, et al.
American Journal of Human Genetics|October 1, 1989
Control of lactase in human adult-type hypolactasia and in weaning rabbits and ratsG Sebastio, M Villa, R Sartorio, et al.
Pageof 7