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Human mutation

Showing results (871-880 of 6,545) with videos related to

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Human Mutation|January 1, 1996
Simple detection of a (Finnish) hereditary tyrosinemia type 1 mutationM St-Louis, J Poudrier, R M Tanguay
Human Mutation|January 1, 1995
Transthyretin mutations in health and diseaseM J Saraiva
Human Mutation|January 1, 1995
Homozygous intragenic deletion in the WT1 gene in a sporadic Wilms' tumour associated with high levels of expression of a truncated transcriptE M Algar, M T Kenney, L A Simms, et al.
Human Mutation|January 1, 1995
Two novel mutations (L32P) and (G85N) among five different missense mutations in six Danish families with Fabry's diseaseK M Madsen, L Hasholt, S A Sørensen, et al.
Human Mutation|October 21, 2016
The Human Serotonin Type 3 Receptor Gene (HTR3A-E) Allelic Variant DatabaseJacopo Celli, Gudrun Rappold, Beate Niesler
Human Mutation|September 15, 2004
GJB2: the spectrum of deafness-causing allele variants and their phenotypeHela Azaiez, G Parker Chamberlin, Stephanie M Fischer, et al.
Human Mutation|September 15, 2004
Novel homozygous p.E64D mutation in DJ1 in early onset Parkinson disease (PARK7)Robert Hering, Karsten M Strauss, Xiao Tao, et al.
Human Mutation|November 4, 2004
Transfer of a mitochondrial DNA fragment to MCOLN1 causes an inherited case of mucolipidosis IVEhud Goldin, Stefanie Stahl, Adele M Cooney, et al.
Human Mutation|November 4, 2004
Mutations in the MMAA gene in patients with the cblA disorder of vitamin B12 metabolismJordan P Lerner-Ellis, C Melissa Dobson, Timothy Wai, et al.
Human Mutation|May 18, 2004
Novel and recurrent mutations in the NF1 gene in Italian patients with neurofibromatosis type 1Alessandro De Luca, Annalisa Schirinzi, Anna Buccino, et al.
Pageof 655

Showing results (871-880 of 6,545) with videos related to

Sort By:
Pageof 655
Human Mutation|January 1, 1996
Simple detection of a (Finnish) hereditary tyrosinemia type 1 mutationM St-Louis, J Poudrier, R M Tanguay
Human Mutation|January 1, 1995
Transthyretin mutations in health and diseaseM J Saraiva
Human Mutation|January 1, 1995
Homozygous intragenic deletion in the WT1 gene in a sporadic Wilms' tumour associated with high levels of expression of a truncated transcriptE M Algar, M T Kenney, L A Simms, et al.
Human Mutation|January 1, 1995
Two novel mutations (L32P) and (G85N) among five different missense mutations in six Danish families with Fabry's diseaseK M Madsen, L Hasholt, S A Sørensen, et al.
Human Mutation|October 21, 2016
The Human Serotonin Type 3 Receptor Gene (HTR3A-E) Allelic Variant DatabaseJacopo Celli, Gudrun Rappold, Beate Niesler
Human Mutation|September 15, 2004
GJB2: the spectrum of deafness-causing allele variants and their phenotypeHela Azaiez, G Parker Chamberlin, Stephanie M Fischer, et al.
Human Mutation|September 15, 2004
Novel homozygous p.E64D mutation in DJ1 in early onset Parkinson disease (PARK7)Robert Hering, Karsten M Strauss, Xiao Tao, et al.
Human Mutation|November 4, 2004
Transfer of a mitochondrial DNA fragment to MCOLN1 causes an inherited case of mucolipidosis IVEhud Goldin, Stefanie Stahl, Adele M Cooney, et al.
Human Mutation|November 4, 2004
Mutations in the MMAA gene in patients with the cblA disorder of vitamin B12 metabolismJordan P Lerner-Ellis, C Melissa Dobson, Timothy Wai, et al.
Human Mutation|May 18, 2004
Novel and recurrent mutations in the NF1 gene in Italian patients with neurofibromatosis type 1Alessandro De Luca, Annalisa Schirinzi, Anna Buccino, et al.
Pageof 655