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E Naughten

Showing results (11-20 of 21) with videos related to

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Biochemical Society Transactions|July 26, 2000
Mutational spectrum of phenylketonuria in IrelandK A O'Donnell, C A O'Neill, P Mayne, et al.
Journal of Pediatric Ophthalmology and Strabismus|October 6, 2000
Ocular findings in glutaric aciduria type 1N A Kafil-Hussain, A Monavari, R Bowell, et al.
The New England Journal of Medicine|April 25, 1991
Hyperhomocysteinemia: an independent risk factor for vascular diseaseR Clarke, L Daly, K Robinson, et al.
Thrombosis and Haemostasis|May 11, 1999
Factor V Leiden (Arg506Gln), a confounding genetic risk factor but not mandatory for the occurrence of venous thromboembolism in homozygotes and obligate heterozygotes for cystathionine beta-synthase deficiencyS Yap, K A O'Donnell, C O'Neill, et al.
European Journal of Human Genetics : EJHG|August 10, 1999
Genetic basis of transferase-deficient galactosaemia in Ireland and the population history of the Irish TravellersM Murphy, B McHugh, O Tighe, et al.
Irish Journal of Medical Science|September 1, 1992
The role of free radicals as mediators of endothelial cell injury in hyperhomocysteinemiaR Clarke, E Naughten, S Cahalane, et al.
Irish Medical Journal|January 1, 1996
Galactosaemia--a controversial disorder. Screening & outcome. Ireland 1972-1992N Badawi, S F Cahalane, M McDonald, et al.
Human Mutation|April 24, 2001
Rapid detection of the R408W and I65T mutations in phenylketonuria by glycosylase mediated polymorphism detectionK A O'Donnell, O Tighe, C O'Neill, et al.
Human Mutation|January 1, 1995
High frequency (71%) of cystathionine beta-synthase mutation G307S in Irish homocystinuria patientsP M Gallagher, P Ward, S Tan, et al.
Molecular Genetics and Metabolism|January 16, 1999
Characterization of mutations in the cystathionine beta-synthase gene in Irish patients with homocystinuriaP M Gallagher, E Naughten, N Q Hanson, et al.
Pageof 3

Showing results (11-20 of 21) with videos related to

Sort By:
Pageof 3
Biochemical Society Transactions|July 26, 2000
Mutational spectrum of phenylketonuria in IrelandK A O'Donnell, C A O'Neill, P Mayne, et al.
Journal of Pediatric Ophthalmology and Strabismus|October 6, 2000
Ocular findings in glutaric aciduria type 1N A Kafil-Hussain, A Monavari, R Bowell, et al.
The New England Journal of Medicine|April 25, 1991
Hyperhomocysteinemia: an independent risk factor for vascular diseaseR Clarke, L Daly, K Robinson, et al.
Thrombosis and Haemostasis|May 11, 1999
Factor V Leiden (Arg506Gln), a confounding genetic risk factor but not mandatory for the occurrence of venous thromboembolism in homozygotes and obligate heterozygotes for cystathionine beta-synthase deficiencyS Yap, K A O'Donnell, C O'Neill, et al.
European Journal of Human Genetics : EJHG|August 10, 1999
Genetic basis of transferase-deficient galactosaemia in Ireland and the population history of the Irish TravellersM Murphy, B McHugh, O Tighe, et al.
Irish Journal of Medical Science|September 1, 1992
The role of free radicals as mediators of endothelial cell injury in hyperhomocysteinemiaR Clarke, E Naughten, S Cahalane, et al.
Irish Medical Journal|January 1, 1996
Galactosaemia--a controversial disorder. Screening & outcome. Ireland 1972-1992N Badawi, S F Cahalane, M McDonald, et al.
Human Mutation|April 24, 2001
Rapid detection of the R408W and I65T mutations in phenylketonuria by glycosylase mediated polymorphism detectionK A O'Donnell, O Tighe, C O'Neill, et al.
Human Mutation|January 1, 1995
High frequency (71%) of cystathionine beta-synthase mutation G307S in Irish homocystinuria patientsP M Gallagher, P Ward, S Tan, et al.
Molecular Genetics and Metabolism|January 16, 1999
Characterization of mutations in the cystathionine beta-synthase gene in Irish patients with homocystinuriaP M Gallagher, E Naughten, N Q Hanson, et al.
Pageof 3