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Human mutation

Showing results (541-550 of 6,543) with videos related to

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Human Mutation|January 1, 1995
Spectrum of beta-thalassemia mutations in the Gaza areaD Filon, V Oron, R Shawa, et al.
Human Mutation|April 12, 2011
Prediction of missense mutation functionality depends on both the algorithm and sequence alignment employedStephanie Hicks, David A Wheeler, Sharon E Plon, et al.
Human Mutation|January 1, 1997
Mutations and polymorphisms in the tuberous sclerosis complex gene on chromosome 16K S Au, J A Rodriguez, E Rodriguez, et al.
Human Mutation|January 1, 1997
Identification of common polymorphisms in the coding sequence of the human MSH receptor (MCIR) with possible biological effectsS V Koppula, L S Robbins, D Lu, et al.
Human Mutation|January 1, 1997
Mutations of the androgen receptor gene in patients with complete androgen insensitivityS Jakubiczka, S Nedel, E A Werder, et al.
Human Mutation|January 1, 1997
A novel splice site mutation (156 + 1G-->A) in the TSC2 geneA Kumar, R S Kandt, C Wolpert, et al.
Human Mutation|January 1, 1997
Novel missense mutation in the coagulation factor IX catalytic domain associated with moderate diseaseD Bartholomew, T Abshire, M Fries, et al.
Human Mutation|January 1, 1997
Mutations and DNA diagnoses of classical citrullinemiaH Kakinoki, K Kobayashi, H Terazono, et al.
Human Mutation|January 1, 1997
Novel HEXA mutation in a Bedouin Tay-Sachs patient associated with exon skipping and reduced transcript levelL Drucker, A Golan, D J Boles, et al.
Human Mutation|January 1, 1997
G-->T transition at cDNA nt 110 (K37Q) in the PKLR (pyruvate kinase) gene is the molecular basis of a case of hereditary increase of red blood cell ATPE Beutler, B Westwood, R van Zwieten, et al.
Pageof 655

Showing results (541-550 of 6,543) with videos related to

Sort By:
Pageof 655
Human Mutation|January 1, 1995
Spectrum of beta-thalassemia mutations in the Gaza areaD Filon, V Oron, R Shawa, et al.
Human Mutation|April 12, 2011
Prediction of missense mutation functionality depends on both the algorithm and sequence alignment employedStephanie Hicks, David A Wheeler, Sharon E Plon, et al.
Human Mutation|January 1, 1997
Mutations and polymorphisms in the tuberous sclerosis complex gene on chromosome 16K S Au, J A Rodriguez, E Rodriguez, et al.
Human Mutation|January 1, 1997
Identification of common polymorphisms in the coding sequence of the human MSH receptor (MCIR) with possible biological effectsS V Koppula, L S Robbins, D Lu, et al.
Human Mutation|January 1, 1997
Mutations of the androgen receptor gene in patients with complete androgen insensitivityS Jakubiczka, S Nedel, E A Werder, et al.
Human Mutation|January 1, 1997
A novel splice site mutation (156 + 1G-->A) in the TSC2 geneA Kumar, R S Kandt, C Wolpert, et al.
Human Mutation|January 1, 1997
Novel missense mutation in the coagulation factor IX catalytic domain associated with moderate diseaseD Bartholomew, T Abshire, M Fries, et al.
Human Mutation|January 1, 1997
Mutations and DNA diagnoses of classical citrullinemiaH Kakinoki, K Kobayashi, H Terazono, et al.
Human Mutation|January 1, 1997
Novel HEXA mutation in a Bedouin Tay-Sachs patient associated with exon skipping and reduced transcript levelL Drucker, A Golan, D J Boles, et al.
Human Mutation|January 1, 1997
G-->T transition at cDNA nt 110 (K37Q) in the PKLR (pyruvate kinase) gene is the molecular basis of a case of hereditary increase of red blood cell ATPE Beutler, B Westwood, R van Zwieten, et al.
Pageof 655