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Human mutation

Showing results (841-850 of 6,545) with videos related to

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Human Mutation|January 1, 1994
Identification of two novel mutations in the CFTR gene: 3007 del G and 3271 + 1 G-->AB Mercier, M P Audrézet, J Feigelson, et al.
Human Mutation|January 1, 1994
Identification of four new mutations in the cystic fibrosis transmembrane conductance regulator gene: I148T, L1077P, Y1092X, 2183AA-->GD Bozon, J Zielenski, F Rininsland, et al.
Human Mutation|January 1, 1995
Transcript analysis of CFTR nonsense mutations in lymphocytes and nasal epithelial cells from cystic fibrosis patientsK Will, T Dörk, M Stuhrmann, et al.
Human Mutation|January 1, 1995
A splicing mutation (1898 + 1G-->T) in the CFTR gene causing cystic fibrosisJ Crawford, A Labrinidis, W F Carey, et al.
Human Mutation|January 1, 1993
Hunter syndrome: gene deletions and rearrangementsR Froissart, J L Blond, I Maire, et al.
Human Mutation|January 1, 1993
Advances in DNA sequencing technologyN J Dovichi
Human Mutation|January 1, 1995
Mutational analysis of patients with X-linked adrenoleukodystrophyF Kok, S Neumann, C O Sarde, et al.
Human Mutation|January 1, 1995
Simultaneous analysis of mutant and normal alleles for multiple cystic fibrosis mutations by the ligase chain reactionP Fang, S Bouma, C Jou, et al.
Human Mutation|January 1, 1995
Human androgen insensitivity due to point mutations encoding amino acid substitutions in the androgen receptor steroid-binding domainK Murono, B B Mendonca, I J Arnhold, et al.
Human Mutation|January 1, 1995
Identification of seven novel mutations associated with metachromatic leukodystrophyM L Barth, A Fensom, A Harris
Pageof 655

Showing results (841-850 of 6,545) with videos related to

Sort By:
Pageof 655
Human Mutation|January 1, 1994
Identification of two novel mutations in the CFTR gene: 3007 del G and 3271 + 1 G-->AB Mercier, M P Audrézet, J Feigelson, et al.
Human Mutation|January 1, 1994
Identification of four new mutations in the cystic fibrosis transmembrane conductance regulator gene: I148T, L1077P, Y1092X, 2183AA-->GD Bozon, J Zielenski, F Rininsland, et al.
Human Mutation|January 1, 1995
Transcript analysis of CFTR nonsense mutations in lymphocytes and nasal epithelial cells from cystic fibrosis patientsK Will, T Dörk, M Stuhrmann, et al.
Human Mutation|January 1, 1995
A splicing mutation (1898 + 1G-->T) in the CFTR gene causing cystic fibrosisJ Crawford, A Labrinidis, W F Carey, et al.
Human Mutation|January 1, 1993
Hunter syndrome: gene deletions and rearrangementsR Froissart, J L Blond, I Maire, et al.
Human Mutation|January 1, 1993
Advances in DNA sequencing technologyN J Dovichi
Human Mutation|January 1, 1995
Mutational analysis of patients with X-linked adrenoleukodystrophyF Kok, S Neumann, C O Sarde, et al.
Human Mutation|January 1, 1995
Simultaneous analysis of mutant and normal alleles for multiple cystic fibrosis mutations by the ligase chain reactionP Fang, S Bouma, C Jou, et al.
Human Mutation|January 1, 1995
Human androgen insensitivity due to point mutations encoding amino acid substitutions in the androgen receptor steroid-binding domainK Murono, B B Mendonca, I J Arnhold, et al.
Human Mutation|January 1, 1995
Identification of seven novel mutations associated with metachromatic leukodystrophyM L Barth, A Fensom, A Harris
Pageof 655