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Human mutation

Showing results (601-610 of 6,543) with videos related to

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Human Mutation|January 1, 1995
Comparison between medium-chain acyl-CoA dehydrogenase mutant proteins overexpressed in bacterial and mammalian cellsT G Jensen, P Bross, B S Andresen, et al.
Human Mutation|January 1, 1995
Novel missense mutation in the phenylalanine hydroxylase gene leading to complete loss of enzymatic activityI Dianzani, P M Knappskog, L de Sanctis, et al.
Human Mutation|January 1, 1995
Novel seventeen basepair deletion in exon 3 of the beta-globin geneJ S Waye, B Eng, W H Francombe, et al.
Human Mutation|January 1, 1995
Three novel mutations in the EGF precursor homology domain of the low-density lipoprotein receptor gene in Northern Irish patients with familial hypercholesterolemiaA J Ward, M O'Kane, I Young, et al.
Human Mutation|January 1, 1995
Missense mutation (Arg121Trp) in the Norrie disease gene associated with x-linked exudative vitreoretinopathyS Fuchs, U Kellner, H Wedemann, et al.
Human Mutation|January 1, 1995
Two novel missense mutations (E654K, L396P) in Caucasian patients with myophosphorylase deficiency (McArdle's disease)S Tsujino, S Shanske, A Martinuzzi, et al.
Human Mutation|January 26, 2006
Mutations in EDAR account for one-quarter of non-ED1-related hypohidrotic ectodermal dysplasiaN Chassaing, S Bourthoumieu, M Cossee, et al.
Human Mutation|February 14, 2006
Germline LEMD3 mutations are rare in sporadic patients with isolated melorheostosisJan Hellemans, Philippe Debeer, Michael Wright, et al.
Human Mutation|February 14, 2006
Recessive dystrophic epidermolysis bullosa caused by COL7A1 hemizygosity and a missense mutation with complex effects on splicingMatthias Titeux, José Enrique Mejía, Luciné Mejlumian, et al.
Human Mutation|February 14, 2006
Mutation study of Spanish patients with hereditary hemorrhagic telangiectasia and expression analysis of Endoglin and ALK1Africa Fernandez-L, Francisco Sanz-Rodriguez, Roberto Zarrabeitia, et al.
Pageof 655

Showing results (601-610 of 6,543) with videos related to

Sort By:
Pageof 655
Human Mutation|January 1, 1995
Comparison between medium-chain acyl-CoA dehydrogenase mutant proteins overexpressed in bacterial and mammalian cellsT G Jensen, P Bross, B S Andresen, et al.
Human Mutation|January 1, 1995
Novel missense mutation in the phenylalanine hydroxylase gene leading to complete loss of enzymatic activityI Dianzani, P M Knappskog, L de Sanctis, et al.
Human Mutation|January 1, 1995
Novel seventeen basepair deletion in exon 3 of the beta-globin geneJ S Waye, B Eng, W H Francombe, et al.
Human Mutation|January 1, 1995
Three novel mutations in the EGF precursor homology domain of the low-density lipoprotein receptor gene in Northern Irish patients with familial hypercholesterolemiaA J Ward, M O'Kane, I Young, et al.
Human Mutation|January 1, 1995
Missense mutation (Arg121Trp) in the Norrie disease gene associated with x-linked exudative vitreoretinopathyS Fuchs, U Kellner, H Wedemann, et al.
Human Mutation|January 1, 1995
Two novel missense mutations (E654K, L396P) in Caucasian patients with myophosphorylase deficiency (McArdle's disease)S Tsujino, S Shanske, A Martinuzzi, et al.
Human Mutation|January 26, 2006
Mutations in EDAR account for one-quarter of non-ED1-related hypohidrotic ectodermal dysplasiaN Chassaing, S Bourthoumieu, M Cossee, et al.
Human Mutation|February 14, 2006
Germline LEMD3 mutations are rare in sporadic patients with isolated melorheostosisJan Hellemans, Philippe Debeer, Michael Wright, et al.
Human Mutation|February 14, 2006
Recessive dystrophic epidermolysis bullosa caused by COL7A1 hemizygosity and a missense mutation with complex effects on splicingMatthias Titeux, José Enrique Mejía, Luciné Mejlumian, et al.
Human Mutation|February 14, 2006
Mutation study of Spanish patients with hereditary hemorrhagic telangiectasia and expression analysis of Endoglin and ALK1Africa Fernandez-L, Francisco Sanz-Rodriguez, Roberto Zarrabeitia, et al.
Pageof 655