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Showing results (111-120 of 137) with videos related to

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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.
Circulation|September 6, 2001
Oxidative stress and platelet activation in homozygous homocystinuriaG Davì, G Di Minno, A Coppola, et al.
Journal of Inherited Metabolic Disease|February 11, 2005
Vitamin D status in patients affected by Smith-Lemli-Opitz syndromeM Rossi, G Federico, G Corso, et al.
Archives of Disease in Childhood|November 13, 2003
Subclinical hypothyroidism and Down's syndrome; studies on myocardial structure and functionE Toscano, G Pacileo, G Limongelli, et al.
Human Mutation|October 23, 2001
Congenital insensitivity to pain with anhidrosis (CIPA): novel mutations of the TRKA (NTRK1) gene, a putative uniparental disomy, and a linkage of the mutant TRKA and PKLR genes in a family with CIPA and pyruvate kinase deficiencyY Indo, S Mardy, Y Miura, et al.
American Journal of Human Genetics|January 1, 1985
The natural history of homocystinuria due to cystathionine beta-synthase deficiencyS H Mudd, F Skovby, H L Levy, et al.
Human Molecular Genetics|December 1, 1996
Molecular and biochemical analysis of protective protein/cathepsin A mutations: correlation with clinical severity in galactosialidosisX Y Zhou, A van der Spoel, R Rottier, et al.
Cell|April 7, 1995
A cluster of sulfatase genes on Xp22.3: mutations in chondrodysplasia punctata (CDPX) and implications for warfarin embryopathyB Franco, G Meroni, G Parenti, 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.
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.
Pageof 14

Showing results (111-120 of 137) with videos related to

Sort By:
Pageof 14
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.
Circulation|September 6, 2001
Oxidative stress and platelet activation in homozygous homocystinuriaG Davì, G Di Minno, A Coppola, et al.
Journal of Inherited Metabolic Disease|February 11, 2005
Vitamin D status in patients affected by Smith-Lemli-Opitz syndromeM Rossi, G Federico, G Corso, et al.
Archives of Disease in Childhood|November 13, 2003
Subclinical hypothyroidism and Down's syndrome; studies on myocardial structure and functionE Toscano, G Pacileo, G Limongelli, et al.
Human Mutation|October 23, 2001
Congenital insensitivity to pain with anhidrosis (CIPA): novel mutations of the TRKA (NTRK1) gene, a putative uniparental disomy, and a linkage of the mutant TRKA and PKLR genes in a family with CIPA and pyruvate kinase deficiencyY Indo, S Mardy, Y Miura, et al.
American Journal of Human Genetics|January 1, 1985
The natural history of homocystinuria due to cystathionine beta-synthase deficiencyS H Mudd, F Skovby, H L Levy, et al.
Human Molecular Genetics|December 1, 1996
Molecular and biochemical analysis of protective protein/cathepsin A mutations: correlation with clinical severity in galactosialidosisX Y Zhou, A van der Spoel, R Rottier, et al.
Cell|April 7, 1995
A cluster of sulfatase genes on Xp22.3: mutations in chondrodysplasia punctata (CDPX) and implications for warfarin embryopathyB Franco, G Meroni, G Parenti, 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.
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.
Pageof 14