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Human mutation

Showing results (171-180 of 6,540) with videos related to

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Human Mutation|January 1, 1992
Fibrillin (FBN1) mutations in Marfan syndromeC Hayward, M Keston, D J Brock, et al.
Human Mutation|January 1, 1992
Screening for mutations by expressing patient cDNA segments in E. coli: homocystinuria due to cystathionine beta-synthase deficiencyV Kozich, J P Kraus
Human Mutation|January 1, 1992
Two missense mutations causing mild hyperphenylalaninemia associated with DNA haplotype 12E Svensson, R C Eisensmith, B Dworniczak, 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.
Human Mutation|January 1, 1992
Missense variation of the CFTR gene codon 507K Will, M Stuhrmann, H Ellemunter, et al.
Human Mutation|January 1, 1992
A cystic fibrosis allele encoding missense mutations in both nucleotide binding folds of the cystic fibrosis transmembrane conductance regulatorN Kälin, T Dörk, B Tümmler
Human Mutation|January 1, 1992
Screening for cystic fibrosis mutations in southern France: identification of a frameshift mutation and two missense variationsM Claustres, B Gerrard, P Kjellberg, et al.
Human Mutation|January 11, 1992
Identification of a novel nonsense mutation (L88X) in exon 3 of the cystic fibrosis transmembrane conductance regulator gene in a native Korean cystic fibrosis chromosomeM Macek, A Hamosh, S Kiesewetter, et al.
Human Mutation|January 1, 1992
Myotonic dystrophy: another case of too many repeats?P Shelbourne, K Johnson
Human Mutation|January 1, 1992
Genetic basis of galactosemiaJ K Reichardt
Pageof 654

Showing results (171-180 of 6,540) with videos related to

Sort By:
Pageof 654
Human Mutation|January 1, 1992
Fibrillin (FBN1) mutations in Marfan syndromeC Hayward, M Keston, D J Brock, et al.
Human Mutation|January 1, 1992
Screening for mutations by expressing patient cDNA segments in E. coli: homocystinuria due to cystathionine beta-synthase deficiencyV Kozich, J P Kraus
Human Mutation|January 1, 1992
Two missense mutations causing mild hyperphenylalaninemia associated with DNA haplotype 12E Svensson, R C Eisensmith, B Dworniczak, 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.
Human Mutation|January 1, 1992
Missense variation of the CFTR gene codon 507K Will, M Stuhrmann, H Ellemunter, et al.
Human Mutation|January 1, 1992
A cystic fibrosis allele encoding missense mutations in both nucleotide binding folds of the cystic fibrosis transmembrane conductance regulatorN Kälin, T Dörk, B Tümmler
Human Mutation|January 1, 1992
Screening for cystic fibrosis mutations in southern France: identification of a frameshift mutation and two missense variationsM Claustres, B Gerrard, P Kjellberg, et al.
Human Mutation|January 11, 1992
Identification of a novel nonsense mutation (L88X) in exon 3 of the cystic fibrosis transmembrane conductance regulator gene in a native Korean cystic fibrosis chromosomeM Macek, A Hamosh, S Kiesewetter, et al.
Human Mutation|January 1, 1992
Myotonic dystrophy: another case of too many repeats?P Shelbourne, K Johnson
Human Mutation|January 1, 1992
Genetic basis of galactosemiaJ K Reichardt
Pageof 654