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Human mutation

Showing results (491-500 of 6,543) with videos related to

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Human Mutation|August 14, 1999
Identification of a common PEX1 mutation in Zellweger syndromeC S Collins, S J Gould
Human Mutation|August 14, 1999
Novel mutations in the Wiskott-Aldrich syndrome protein gene and their effects on transcriptional, translational, and clinical phenotypesV Lemahieu, J M Gastier, U Francke
Human Mutation|August 14, 1999
A methylation PCR approach for detection of fragile X syndromeI Panagopoulos, C Lassen, U Kristoffersson, et al.
Human Mutation|August 14, 1999
Genotyping of the three major allelic variants of the human mannose-binding lectin gene by denaturing gradient gel electrophoresisM Gabolde, S Muralitharan, C Besmond
Human Mutation|August 14, 1999
Different somatic and germline HPRT1 mutations promote use of a common, cryptic intron 1 splice site. Mutation in brief no. 259. OnlineL M Colgin, A F Hackmann, R J Monnat
Human Mutation|July 29, 1999
Identification of three novel mutations in the MYO7A geneJ M Cuevas, C Espinós, J M Millán, et al.
Human Mutation|September 2, 2000
Novel allele containing a 190C>T nonsynonymous substitution in the N-acetyltransferase (NAT2) geneK Shishikura, H Hohjoh, K Tokunaga
Human Mutation|September 12, 2000
Mutations in familial porphyria cutanea tarda: two novel and two previously described for hepatoerythropoietic porphyriaM Mendez, M V Rossetti, A De Siervi, et al.
Human Mutation|September 12, 2000
Novel mutations in the myocilin gene in Japanese glaucoma patientsR Kubota, Y Mashima, Y Ohtake, et al.
Human Mutation|September 12, 2000
Detection of mutations in the ALD gene (ABCD1) in seven Italian families: description of four novel mutationsM G Lira, M Mottes, P F Pignatti, et al.
Pageof 655

Showing results (491-500 of 6,543) with videos related to

Sort By:
Pageof 655
Human Mutation|August 14, 1999
Identification of a common PEX1 mutation in Zellweger syndromeC S Collins, S J Gould
Human Mutation|August 14, 1999
Novel mutations in the Wiskott-Aldrich syndrome protein gene and their effects on transcriptional, translational, and clinical phenotypesV Lemahieu, J M Gastier, U Francke
Human Mutation|August 14, 1999
A methylation PCR approach for detection of fragile X syndromeI Panagopoulos, C Lassen, U Kristoffersson, et al.
Human Mutation|August 14, 1999
Genotyping of the three major allelic variants of the human mannose-binding lectin gene by denaturing gradient gel electrophoresisM Gabolde, S Muralitharan, C Besmond
Human Mutation|August 14, 1999
Different somatic and germline HPRT1 mutations promote use of a common, cryptic intron 1 splice site. Mutation in brief no. 259. OnlineL M Colgin, A F Hackmann, R J Monnat
Human Mutation|July 29, 1999
Identification of three novel mutations in the MYO7A geneJ M Cuevas, C Espinós, J M Millán, et al.
Human Mutation|September 2, 2000
Novel allele containing a 190C>T nonsynonymous substitution in the N-acetyltransferase (NAT2) geneK Shishikura, H Hohjoh, K Tokunaga
Human Mutation|September 12, 2000
Mutations in familial porphyria cutanea tarda: two novel and two previously described for hepatoerythropoietic porphyriaM Mendez, M V Rossetti, A De Siervi, et al.
Human Mutation|September 12, 2000
Novel mutations in the myocilin gene in Japanese glaucoma patientsR Kubota, Y Mashima, Y Ohtake, et al.
Human Mutation|September 12, 2000
Detection of mutations in the ALD gene (ABCD1) in seven Italian families: description of four novel mutationsM G Lira, M Mottes, P F Pignatti, et al.
Pageof 655