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M Delpech

Showing results (71-80 of 96) with videos related to

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Blood|December 9, 2000
Unbalanced X-chromosome inactivation with a novel FVIII gene mutation resulting in severe hemophilia A in a femaleR Favier, J M Lavergne, J M Costa, et al.
Annals of the Rheumatic Diseases|November 27, 2010
Mutations in the autoinflammatory cryopyrin-associated periodic syndrome gene: epidemiological study and lessons from eight years of genetic analysis in FranceL Cuisset, I Jeru, B Dumont, et al.
Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis|February 26, 1999
Fibrinogen A alpha chain mutation (Arg554 Leu) associated with hereditary renal amyloidosis in a French familyL Hamidi Asl, V Fournier, C Billerey, et al.
Annales De Medecine Interne|January 1, 1986
[Prenatal diagnosis of hemophilia A by analysis of DNA]M Delpech, P Maisonneuve, M Baudis, et al.
Annales De Genetique|January 1, 1997
PEG1 expression in maternal uniparental disomy 7L Cuisset, C Le Stunff, J M Dupont, et al.
Human Genetics|April 1, 1990
Investigation of factor VIII:C gene restriction fragment length polymorphisms and search for deletions in hemophiliac subjects in AlgeriaK Nafa, F Meriane, A Reghis, et al.
American Journal of Ophthalmology|February 22, 2000
A new mutation (A546T) of the betaig-h3 gene responsible for a French lattice corneal dystrophy type IIIAP Dighiero, S Drunat, P Ellies, et al.
Ophthalmology|July 13, 2000
Clinical, histologic, and ultrastructural features of the corneal dystrophy caused by the R124L mutation of the BIGH3 geneP Dighiero, S Valleix, F D'Hermies, et al.
Dermatology (Basel, Switzerland)|April 4, 2003
CIAS1 mutation in a patient with overlap between Muckle-Wells and chronic infantile neurological cutaneous and articular syndromesB Granel, N Philip, J Serratrice, et al.
Arthritis and Rheumatism|July 21, 2000
A novel missense mutation (C30S) in the gene encoding tumor necrosis factor receptor 1 linked to autosomal-dominant recurrent fever with localized myositis in a French familyC Dodé, T Papo, C Fieschi, et al.
Pageof 10

Showing results (71-80 of 96) with videos related to

Sort By:
Pageof 10
Blood|December 9, 2000
Unbalanced X-chromosome inactivation with a novel FVIII gene mutation resulting in severe hemophilia A in a femaleR Favier, J M Lavergne, J M Costa, et al.
Annals of the Rheumatic Diseases|November 27, 2010
Mutations in the autoinflammatory cryopyrin-associated periodic syndrome gene: epidemiological study and lessons from eight years of genetic analysis in FranceL Cuisset, I Jeru, B Dumont, et al.
Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis|February 26, 1999
Fibrinogen A alpha chain mutation (Arg554 Leu) associated with hereditary renal amyloidosis in a French familyL Hamidi Asl, V Fournier, C Billerey, et al.
Annales De Medecine Interne|January 1, 1986
[Prenatal diagnosis of hemophilia A by analysis of DNA]M Delpech, P Maisonneuve, M Baudis, et al.
Annales De Genetique|January 1, 1997
PEG1 expression in maternal uniparental disomy 7L Cuisset, C Le Stunff, J M Dupont, et al.
Human Genetics|April 1, 1990
Investigation of factor VIII:C gene restriction fragment length polymorphisms and search for deletions in hemophiliac subjects in AlgeriaK Nafa, F Meriane, A Reghis, et al.
American Journal of Ophthalmology|February 22, 2000
A new mutation (A546T) of the betaig-h3 gene responsible for a French lattice corneal dystrophy type IIIAP Dighiero, S Drunat, P Ellies, et al.
Ophthalmology|July 13, 2000
Clinical, histologic, and ultrastructural features of the corneal dystrophy caused by the R124L mutation of the BIGH3 geneP Dighiero, S Valleix, F D'Hermies, et al.
Dermatology (Basel, Switzerland)|April 4, 2003
CIAS1 mutation in a patient with overlap between Muckle-Wells and chronic infantile neurological cutaneous and articular syndromesB Granel, N Philip, J Serratrice, et al.
Arthritis and Rheumatism|July 21, 2000
A novel missense mutation (C30S) in the gene encoding tumor necrosis factor receptor 1 linked to autosomal-dominant recurrent fever with localized myositis in a French familyC Dodé, T Papo, C Fieschi, et al.
Pageof 10