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S Drunat

Showing results (1-10 of 16) with videos related to

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Diabetes|January 1, 2000
Refinement of the 6q chromosomal region implicated in transient neonatal diabetesH Cavé, M Polak, S Drunat, et al.
Archives of Ophthalmology (Chicago, Ill. : 1960)|June 24, 2000
A novel variant of granular corneal dystrophy caused by association of 2 mutations in the TGFBI gene-R124L and DeltaT125-DeltaE126P Dighiero, S Drunat, F D'Hermies, et al.
Revue Neurologique|September 27, 2021
Late moyamoya-like angiopathy syndrome revealing MAP2K1 Noonan syndromeJ-L Méreaux, A Triquenot, S Drunat, et al.
European Journal of Biochemistry|October 19, 2001
Homocysteine-induced decrease in endothelin-1 production is initiated at the extracellular level and involves oxidative productsS Drunat, N Moatti, J L Paul, et al.
British Journal of Haematology|September 1, 2001
Quantification of TEL-AML1 transcript for minimal residual disease assessment in childhood acute lymphoblastic leukaemiaS Drunat, M Olivi, G Brunie, et al.
Neurology|February 11, 2012
Genotype-phenotype relationship in 2 SMA III patients with novel mutations in the Tudor domainM J Fraidakis, S Drunat, T Maisonobe, et al.
Clinical Genetics|June 16, 2017
Further delineation of the phenotype caused by biallelic variants in the WDR4 geneA Trimouille, E Lasseaux, P Barat, 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.
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.
European Journal of Medical Genetics|May 21, 2009
Chromosome 22q13.3 deletion syndrome with a de novo interstitial 22q13.3 cryptic deletion disrupting SHANK3A Delahaye, A Toutain, A Aboura, et al.
Pageof 2

Showing results (1-10 of 16) with videos related to

Sort By:
Pageof 2
Diabetes|January 1, 2000
Refinement of the 6q chromosomal region implicated in transient neonatal diabetesH Cavé, M Polak, S Drunat, et al.
Archives of Ophthalmology (Chicago, Ill. : 1960)|June 24, 2000
A novel variant of granular corneal dystrophy caused by association of 2 mutations in the TGFBI gene-R124L and DeltaT125-DeltaE126P Dighiero, S Drunat, F D'Hermies, et al.
Revue Neurologique|September 27, 2021
Late moyamoya-like angiopathy syndrome revealing MAP2K1 Noonan syndromeJ-L Méreaux, A Triquenot, S Drunat, et al.
European Journal of Biochemistry|October 19, 2001
Homocysteine-induced decrease in endothelin-1 production is initiated at the extracellular level and involves oxidative productsS Drunat, N Moatti, J L Paul, et al.
British Journal of Haematology|September 1, 2001
Quantification of TEL-AML1 transcript for minimal residual disease assessment in childhood acute lymphoblastic leukaemiaS Drunat, M Olivi, G Brunie, et al.
Neurology|February 11, 2012
Genotype-phenotype relationship in 2 SMA III patients with novel mutations in the Tudor domainM J Fraidakis, S Drunat, T Maisonobe, et al.
Clinical Genetics|June 16, 2017
Further delineation of the phenotype caused by biallelic variants in the WDR4 geneA Trimouille, E Lasseaux, P Barat, 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.
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.
European Journal of Medical Genetics|May 21, 2009
Chromosome 22q13.3 deletion syndrome with a de novo interstitial 22q13.3 cryptic deletion disrupting SHANK3A Delahaye, A Toutain, A Aboura, et al.
Pageof 2