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 (51-60 of 67) with videos related to

Pageof 7
Sort By:
Genomics|May 23, 1998
The gene encoding a cationic amino acid transporter (SLC7A4) maps to the region deleted in the velocardiofacial syndromeM P Sperandeo, G Borsani, B Incerti, et al.
Journal of Medical Genetics|April 1, 1991
Aldolase B mutations in Italian families affected by hereditary fructose intoleranceG Sebastio, R de Franchis, P Strisciuglio, et al.
European Journal of Human Genetics : EJHG|January 1, 1995
Characterization of phenylketonuria alleles in the Italian populationI Dianzani, S Giannattasio, L de Sanctis, et al.
Lancet (London, England)|February 10, 1990
Molecular analysis of aldolase B genes in hereditary fructose intoleranceN C Cross, R de Franchis, G Sebastio, et al.
American Journal of Human Genetics|July 1, 1996
Elevated total plasma homocysteine and 677C-->T mutation of the 5,10-methylenetetrahydrofolate reductase gene in thrombotic vascular diseaseR de Franchis, F P Mancini, A D'Angelo, et al.
American Journal of Medical Genetics|September 25, 2001
Case of Myhre syndrome with autism and peculiar skin histological findingsL Titomanlio, M G Marzano, E Rossi, et al.
Nature Genetics|March 18, 1999
SLC7A7, encoding a putative permease-related protein, is mutated in patients with lysinuric protein intoleranceG Borsani, M T Bassi, M P Sperandeo, et al.
Nature|January 3, 1991
Localization of the X inactivation centre on the human X chromosome in Xq13C J Brown, R G Lafreniere, V E Powers, et al.
American Journal of Medical Genetics|May 17, 1996
Molecular and cytogenetic characterization of a recurrent unbalanced translocation (4;21)(p16.3;q22.1): relevance to the Wolf-Hirschhorn and Down syndrome critical regionsG Sebastio, L Perone, V Guzzetta, et al.
American Journal of Human Genetics|March 11, 2000
Relaxation of insulin-like growth factor 2 imprinting and discordant methylation at KvDMR1 in two first cousins affected by Beckwith-Wiedemann and Klippel-Trenaunay-Weber syndromesM P Sperandeo, P Ungaro, M Vernucci, et al.
Pageof 7

Showing results (51-60 of 67) with videos related to

Sort By:
Pageof 7
Genomics|May 23, 1998
The gene encoding a cationic amino acid transporter (SLC7A4) maps to the region deleted in the velocardiofacial syndromeM P Sperandeo, G Borsani, B Incerti, et al.
Journal of Medical Genetics|April 1, 1991
Aldolase B mutations in Italian families affected by hereditary fructose intoleranceG Sebastio, R de Franchis, P Strisciuglio, et al.
European Journal of Human Genetics : EJHG|January 1, 1995
Characterization of phenylketonuria alleles in the Italian populationI Dianzani, S Giannattasio, L de Sanctis, et al.
Lancet (London, England)|February 10, 1990
Molecular analysis of aldolase B genes in hereditary fructose intoleranceN C Cross, R de Franchis, G Sebastio, et al.
American Journal of Human Genetics|July 1, 1996
Elevated total plasma homocysteine and 677C-->T mutation of the 5,10-methylenetetrahydrofolate reductase gene in thrombotic vascular diseaseR de Franchis, F P Mancini, A D'Angelo, et al.
American Journal of Medical Genetics|September 25, 2001
Case of Myhre syndrome with autism and peculiar skin histological findingsL Titomanlio, M G Marzano, E Rossi, et al.
Nature Genetics|March 18, 1999
SLC7A7, encoding a putative permease-related protein, is mutated in patients with lysinuric protein intoleranceG Borsani, M T Bassi, M P Sperandeo, et al.
Nature|January 3, 1991
Localization of the X inactivation centre on the human X chromosome in Xq13C J Brown, R G Lafreniere, V E Powers, et al.
American Journal of Medical Genetics|May 17, 1996
Molecular and cytogenetic characterization of a recurrent unbalanced translocation (4;21)(p16.3;q22.1): relevance to the Wolf-Hirschhorn and Down syndrome critical regionsG Sebastio, L Perone, V Guzzetta, et al.
American Journal of Human Genetics|March 11, 2000
Relaxation of insulin-like growth factor 2 imprinting and discordant methylation at KvDMR1 in two first cousins affected by Beckwith-Wiedemann and Klippel-Trenaunay-Weber syndromesM P Sperandeo, P Ungaro, M Vernucci, et al.
Pageof 7