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Overview Leadership Blog JoVE Help Center

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Publishing Process Editorial Board Scope & Policies Peer Review FAQ Submit

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M S Ristaldi

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Blood|February 1, 1990

Recurrent mutations and three novel rearrangements in the factor VIII gene of hemophilia A patients of Italian descentL Casula, S Murru, M Pecorara, et al.

Blood|March 15, 1990

A spontaneous mutation produced a novel elongated beta-globin chain structural variant (Hb Agnana) with a thalassemia-like phenotypeM S Ristaldi, M Pirastu, S Murru, et al.

Human Mutation|January 1, 1992

A novel delta-thalassemia mutation A G-->C substitution at codon 30 of the delta-globin gene in a person of southern Italian originG Loudianos, S Murru, M S Ristaldi, et al.

British Journal of Haematology|April 1, 1990

The C-T substitution in the distal CACCC box of the beta-globin gene promoter is a common cause of silent beta thalassaemia in the Italian populationM S Ristaldi, S Murru, G Loudianos, et al.

Journal of Medical Genetics|February 1, 1989

Carrier detection and early diagnosis of Wilson's disease by restriction fragment length polymorphism analysisA Figus, R Lampis, M Devoto, et al.

Nature Genetics|February 15, 2001

The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndromeL Crisponi, M Deiana, A Loi, et al.

Pageof 3

Search research articles

Showing results (21-30 of 26) with videos related to

Sort By:

Pageof 3

You have reached the last page of results.This site can display upto 26 results.

Blood|February 1, 1990

Recurrent mutations and three novel rearrangements in the factor VIII gene of hemophilia A patients of Italian descentL Casula, S Murru, M Pecorara, et al.

Blood|March 15, 1990

A spontaneous mutation produced a novel elongated beta-globin chain structural variant (Hb Agnana) with a thalassemia-like phenotypeM S Ristaldi, M Pirastu, S Murru, et al.

Human Mutation|January 1, 1992

A novel delta-thalassemia mutation A G-->C substitution at codon 30 of the delta-globin gene in a person of southern Italian originG Loudianos, S Murru, M S Ristaldi, et al.

British Journal of Haematology|April 1, 1990

The C-T substitution in the distal CACCC box of the beta-globin gene promoter is a common cause of silent beta thalassaemia in the Italian populationM S Ristaldi, S Murru, G Loudianos, et al.

Journal of Medical Genetics|February 1, 1989

Carrier detection and early diagnosis of Wilson's disease by restriction fragment length polymorphism analysisA Figus, R Lampis, M Devoto, et al.

Nature Genetics|February 15, 2001

The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndromeL Crisponi, M Deiana, A Loi, et al.

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