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Human mutation

Showing results (1391-1400 of 5,734) with videos related to

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Human Mutation|January 1, 1992
Molecular basis of phenylketonuria and related hyperphenylalaninemias: mutations and polymorphisms in the human phenylalanine hydroxylase geneR C Eisensmith, S L Woo
Human Mutation|January 1, 1992
Partial gene duplication as a cause of human diseaseX Hu, R G Worton
Human Mutation|September 5, 2003
MLYCD mutation analysis: evidence for protein mistargeting as a cause of MLYCD deficiencyP J Wightman, R Santer, A Ribes, et al.
Human Mutation|September 5, 2003
Rapid detection of beta-globin gene (HBB) mutations coupling heteroduplex and primer-extension analysis by DHPLCYi-Ning Su, Chien-Nan Lee, Chia-Cheng Hung, et al.
Human Mutation|September 5, 2003
Mutational screening of the RB1 gene in Indian patients with retinoblastoma reveals eight novel and several recurrent mutationsVelamakanni Saroj Kiran, Chitra Kannabiran, Kalyana Chakravarthi, et al.
Human Mutation|January 1, 1992
Amino acid substitutions in conserved domains of factor VIII and related proteins: study of patients with mild and moderately severe hemophilia AC Diamond, S Kogan, B Levinson, et al.
Human Mutation|January 1, 1992
Clustering of fibrillin (FBN1) missense mutations in Marfan syndrome patients at cysteine residues in EGF-like domainsH C Dietz, J M Saraiva, R E Pyeritz, et al.
Human Mutation|January 1, 1992
Two novel mutations responsible for hereditary type I protein C deficiency: characterization by denaturing gradient gel electrophoresisS Gandrille, M Vidaud, M Aiach, et al.
Human Mutation|March 6, 2003
The UMD-p53 database: new mutations and analysis toolsChristophe Béroud, Thierry Soussi
Human Mutation|March 6, 2003
TP53 family members and human cancersJean Bénard, Setha Douc-Rasy, Jean-Charles Ahomadegbe
Pageof 574

Showing results (1391-1400 of 5,734) with videos related to

Sort By:
Pageof 574
Human Mutation|January 1, 1992
Molecular basis of phenylketonuria and related hyperphenylalaninemias: mutations and polymorphisms in the human phenylalanine hydroxylase geneR C Eisensmith, S L Woo
Human Mutation|January 1, 1992
Partial gene duplication as a cause of human diseaseX Hu, R G Worton
Human Mutation|September 5, 2003
MLYCD mutation analysis: evidence for protein mistargeting as a cause of MLYCD deficiencyP J Wightman, R Santer, A Ribes, et al.
Human Mutation|September 5, 2003
Rapid detection of beta-globin gene (HBB) mutations coupling heteroduplex and primer-extension analysis by DHPLCYi-Ning Su, Chien-Nan Lee, Chia-Cheng Hung, et al.
Human Mutation|September 5, 2003
Mutational screening of the RB1 gene in Indian patients with retinoblastoma reveals eight novel and several recurrent mutationsVelamakanni Saroj Kiran, Chitra Kannabiran, Kalyana Chakravarthi, et al.
Human Mutation|January 1, 1992
Amino acid substitutions in conserved domains of factor VIII and related proteins: study of patients with mild and moderately severe hemophilia AC Diamond, S Kogan, B Levinson, et al.
Human Mutation|January 1, 1992
Clustering of fibrillin (FBN1) missense mutations in Marfan syndrome patients at cysteine residues in EGF-like domainsH C Dietz, J M Saraiva, R E Pyeritz, et al.
Human Mutation|January 1, 1992
Two novel mutations responsible for hereditary type I protein C deficiency: characterization by denaturing gradient gel electrophoresisS Gandrille, M Vidaud, M Aiach, et al.
Human Mutation|March 6, 2003
The UMD-p53 database: new mutations and analysis toolsChristophe Béroud, Thierry Soussi
Human Mutation|March 6, 2003
TP53 family members and human cancersJean Bénard, Setha Douc-Rasy, Jean-Charles Ahomadegbe
Pageof 574