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M Pirastu

Showing results (21-30 of 101) with videos related to

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Journal of Medical Genetics|November 1, 1988
Beta thalassaemia mutations in Turkish CypriotsA Sozuoz, A Berkalp, A Figus, et al.
British Journal of Haematology|October 1, 1987
Molecular characterization of a normal Hb A2 beta-thalassaemia determinant in a Sardinian familyL Oggiano, M Pirastu, P Moi, et al.
American Journal of Human Genetics|April 16, 1998
The -75A-->C substitution in the 5' UTR of the Wilson disease gene is a sequence polymorphism in the Mediterranean populationG Loudianos, V Dessi, M Lovicu, et al.
Nature|January 5, 1984
Ferrara beta 0 thalassaemia caused by the beta 39 nonsense mutationM Pirastu, L del Senno, F Conconi, et al.
Diabetologia|November 1, 1996
A new missense mutation in the glucokinase gene in an Italian Mody familyC Bertini, M Maioli, P Fresu, et al.
Hemoglobin|January 1, 1992
Normal delta-globin gene sequences in Sardinian nondeletional delta beta-thalassemiaG Loudianos, P Moi, J Lavinha, et al.
European Journal of Pediatrics|March 21, 1998
Early and severe neurological features in a Wilson disease patient compound heterozygous for two frameshift mutationsA Angius, V Dessi, M Lovicu, et al.
Blood|July 1, 1983
Phenotypic effect of heterozygous alpha and beta 0-thalassemia interactionM A Melis, M Pirastu, R Galanello, et al.
Archives of Ophthalmology (Chicago, Ill. : 1960)|April 1, 1996
Deletion in the peripherin/RDS gene in two unrelated Sardinian families with autosomal dominant butterfly-shaped macular dystrophyM Fossarello, C Bertini, M S Galantuomo, et al.
American Journal of Ophthalmology|February 22, 2000
A novel spontaneous missense mutation in VMD2 gene is a cause of a best macular dystrophy sporadic caseG Palomba, C Rozzo, A Angius, et al.
Pageof 11

Showing results (21-30 of 101) with videos related to

Sort By:
Pageof 11
Journal of Medical Genetics|November 1, 1988
Beta thalassaemia mutations in Turkish CypriotsA Sozuoz, A Berkalp, A Figus, et al.
British Journal of Haematology|October 1, 1987
Molecular characterization of a normal Hb A2 beta-thalassaemia determinant in a Sardinian familyL Oggiano, M Pirastu, P Moi, et al.
American Journal of Human Genetics|April 16, 1998
The -75A-->C substitution in the 5' UTR of the Wilson disease gene is a sequence polymorphism in the Mediterranean populationG Loudianos, V Dessi, M Lovicu, et al.
Nature|January 5, 1984
Ferrara beta 0 thalassaemia caused by the beta 39 nonsense mutationM Pirastu, L del Senno, F Conconi, et al.
Diabetologia|November 1, 1996
A new missense mutation in the glucokinase gene in an Italian Mody familyC Bertini, M Maioli, P Fresu, et al.
Hemoglobin|January 1, 1992
Normal delta-globin gene sequences in Sardinian nondeletional delta beta-thalassemiaG Loudianos, P Moi, J Lavinha, et al.
European Journal of Pediatrics|March 21, 1998
Early and severe neurological features in a Wilson disease patient compound heterozygous for two frameshift mutationsA Angius, V Dessi, M Lovicu, et al.
Blood|July 1, 1983
Phenotypic effect of heterozygous alpha and beta 0-thalassemia interactionM A Melis, M Pirastu, R Galanello, et al.
Archives of Ophthalmology (Chicago, Ill. : 1960)|April 1, 1996
Deletion in the peripherin/RDS gene in two unrelated Sardinian families with autosomal dominant butterfly-shaped macular dystrophyM Fossarello, C Bertini, M S Galantuomo, et al.
American Journal of Ophthalmology|February 22, 2000
A novel spontaneous missense mutation in VMD2 gene is a cause of a best macular dystrophy sporadic caseG Palomba, C Rozzo, A Angius, et al.
Pageof 11