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Human mutation

Showing results (511-520 of 6,543) with videos related to

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Human Mutation|January 1, 1994
Population variation of common cystic fibrosis mutations. The Cystic Fibrosis Genetic Analysis Consortium
Human Mutation|January 1, 1994
Genetic basis of inherited peripheral neuropathiesU Suter, P I Patel
Human Mutation|January 1, 1994
Hb FM-Fort Ripley: confirmation of autosomal dominant inheritance and diagnosis by PCR and direct nucleotide sequencingR D Hain, D Chitayat, R Cooper, et al.
Human Mutation|January 1, 1993
A method to isolate DNA from small archival tissue samples for p53 gene analysisE L Schubert, F Z Bischoff, L L Whitaker, et al.
Human Mutation|January 1, 1993
Screening for molecular pathologies in Lesch-Nyhan syndromeM Boyd, W G Lanyon, J M Connor
Human Mutation|January 1, 1993
Mutation in Scheie syndrome (MPS IS): a G-->A transition creates new splice site in intron 5 of one IDUA alleleS M Moskowitz, P T Tieu, E F Neufeld
Human Mutation|January 1, 1993
Simultaneous detection of the two prevalent mutations in the cystic fibrosis gene in Reunion IslandT Bienvenu, S Bousquet, C Herbulot, et al.
Human Mutation|January 1, 1995
Leu-676-Pro mutation of the androgen receptor causes complete androgen insensitivity syndrome in a large Hutterite kindredD D Belsham, F Pereira, C R Greenberg, et al.
Human Mutation|January 1, 1995
Identification of six mutations (R31L, 441delA, 681delC, 1461ins4, W1089R, E1104X) in the cystic fibrosis transmembrane conductance regulator (CFTR) geneJ Zielenski, D Markiewicz, H S Chen, et al.
Human Mutation|January 1, 1995
Aberrant splicing of the type III procollagen mRNA leads to intracellular degradation of the protein in a patient with Ehlers-Danlos type IVS Thakker-Varia, D W Anderson, H Kuivaniemi, et al.
Pageof 655

Showing results (511-520 of 6,543) with videos related to

Sort By:
Pageof 655
Human Mutation|January 1, 1994
Population variation of common cystic fibrosis mutations. The Cystic Fibrosis Genetic Analysis Consortium
Human Mutation|January 1, 1994
Genetic basis of inherited peripheral neuropathiesU Suter, P I Patel
Human Mutation|January 1, 1994
Hb FM-Fort Ripley: confirmation of autosomal dominant inheritance and diagnosis by PCR and direct nucleotide sequencingR D Hain, D Chitayat, R Cooper, et al.
Human Mutation|January 1, 1993
A method to isolate DNA from small archival tissue samples for p53 gene analysisE L Schubert, F Z Bischoff, L L Whitaker, et al.
Human Mutation|January 1, 1993
Screening for molecular pathologies in Lesch-Nyhan syndromeM Boyd, W G Lanyon, J M Connor
Human Mutation|January 1, 1993
Mutation in Scheie syndrome (MPS IS): a G-->A transition creates new splice site in intron 5 of one IDUA alleleS M Moskowitz, P T Tieu, E F Neufeld
Human Mutation|January 1, 1993
Simultaneous detection of the two prevalent mutations in the cystic fibrosis gene in Reunion IslandT Bienvenu, S Bousquet, C Herbulot, et al.
Human Mutation|January 1, 1995
Leu-676-Pro mutation of the androgen receptor causes complete androgen insensitivity syndrome in a large Hutterite kindredD D Belsham, F Pereira, C R Greenberg, et al.
Human Mutation|January 1, 1995
Identification of six mutations (R31L, 441delA, 681delC, 1461ins4, W1089R, E1104X) in the cystic fibrosis transmembrane conductance regulator (CFTR) geneJ Zielenski, D Markiewicz, H S Chen, et al.
Human Mutation|January 1, 1995
Aberrant splicing of the type III procollagen mRNA leads to intracellular degradation of the protein in a patient with Ehlers-Danlos type IVS Thakker-Varia, D W Anderson, H Kuivaniemi, et al.
Pageof 655