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Human mutation

Showing results (631-640 of 6,543) with videos related to

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Human Mutation|October 23, 2001
Go!Poly: A gene-oriented polymorphism databaseG Zhang, S Zhang, W Chen, et al.
Human Mutation|October 23, 2001
Matroshka and ectopic polymorphisms: Two new classes of DNA sequence variation identified at the Van der Woude syndrome locus on 1q32-q41Y Watanabe, J C Murray, B C Bjork, et al.
Human Mutation|July 5, 2001
Pattern of connexin 26 (GJB2) mutations causing sensorineural hearing impairment in GhanaC Hamelmann, G K Amedofu, K Albrecht, et al.
Human Mutation|August 29, 2001
Novel AIRE mutations and P450 cytochrome autoantibodies in Central and Eastern European patients with APECEDD Cihakova, K Trebusak, M Heino, et al.
Human Mutation|August 29, 2001
Detection of six novel FBN1 mutations in British patients affected by Marfan syndromeP Comeglio, A L Evans, G W Brice, et al.
Human Mutation|August 29, 2001
Identification of four novel RB1 germline mutations in Korean retinoblastoma patientsY S Yu, I J Kim, J L Ku, et al.
Human Mutation|August 29, 2001
Molecular analysis of Japanese patients with Rett syndrome: Identification of five novel mutations and genotype-phenotype correlationY Yamada, K Miura, T Kumagai, et al.
Human Mutation|February 12, 2000
Case report of a Thai male cystic fibrosis patinet with the 1898+ 1G-->T splicing mutation in the CFTR gene: a review of East Asian cases. Mutations in brief no. 196. OnlineS Suwanjutha, N N Huang, D Wattanasirichaigoon, et al.
Human Mutation|February 12, 2000
Mutation in the nerve-specific 5'non-coding region of Cx32 gene and absence of specific mRNA in a CMTX1 Italian family. Mutations in brief no. 195. OnlineL Flagiello, V Cirigliano, M Strazzullo, et al.
Human Mutation|February 12, 2000
Lys650Met substitution in the tyrosine kinase domain of the fibroblast growth factor receptor gene causes thanatophoric dysplasia Type I. Mutations in brief no. 199. OnlineH Kitoh, S G Brodie, K G Kupke, et al.
Pageof 655

Showing results (631-640 of 6,543) with videos related to

Sort By:
Pageof 655
Human Mutation|October 23, 2001
Go!Poly: A gene-oriented polymorphism databaseG Zhang, S Zhang, W Chen, et al.
Human Mutation|October 23, 2001
Matroshka and ectopic polymorphisms: Two new classes of DNA sequence variation identified at the Van der Woude syndrome locus on 1q32-q41Y Watanabe, J C Murray, B C Bjork, et al.
Human Mutation|July 5, 2001
Pattern of connexin 26 (GJB2) mutations causing sensorineural hearing impairment in GhanaC Hamelmann, G K Amedofu, K Albrecht, et al.
Human Mutation|August 29, 2001
Novel AIRE mutations and P450 cytochrome autoantibodies in Central and Eastern European patients with APECEDD Cihakova, K Trebusak, M Heino, et al.
Human Mutation|August 29, 2001
Detection of six novel FBN1 mutations in British patients affected by Marfan syndromeP Comeglio, A L Evans, G W Brice, et al.
Human Mutation|August 29, 2001
Identification of four novel RB1 germline mutations in Korean retinoblastoma patientsY S Yu, I J Kim, J L Ku, et al.
Human Mutation|August 29, 2001
Molecular analysis of Japanese patients with Rett syndrome: Identification of five novel mutations and genotype-phenotype correlationY Yamada, K Miura, T Kumagai, et al.
Human Mutation|February 12, 2000
Case report of a Thai male cystic fibrosis patinet with the 1898+ 1G-->T splicing mutation in the CFTR gene: a review of East Asian cases. Mutations in brief no. 196. OnlineS Suwanjutha, N N Huang, D Wattanasirichaigoon, et al.
Human Mutation|February 12, 2000
Mutation in the nerve-specific 5'non-coding region of Cx32 gene and absence of specific mRNA in a CMTX1 Italian family. Mutations in brief no. 195. OnlineL Flagiello, V Cirigliano, M Strazzullo, et al.
Human Mutation|February 12, 2000
Lys650Met substitution in the tyrosine kinase domain of the fibroblast growth factor receptor gene causes thanatophoric dysplasia Type I. Mutations in brief no. 199. OnlineH Kitoh, S G Brodie, K G Kupke, et al.
Pageof 655