Human mutation - JoVE Visualize

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Human Mutation|January 11, 2000

Evaluation of DHPLC analysis in mutational scanning of Notch3, a gene with a high G-C contentJ L Escary, M Cécillon, J Maciazek, et al.

Human Mutation|December 5, 2000

Mutational analysis of GLUT1 (SLC2A1) in glut-1 deficiency syndrome; dong wang; pamela kranz-eble; darryl C. De vivo; (Article was originally published in human mutation 16:224-231, 2000)Escary, Cecillon, Maciazek, et al.

Human Mutation|January 11, 2000

Polymorphisms in a pseudogene highly homologous to PMS2R B Chadwick, J E Meek, T W Prior, et al.

Human Mutation|March 25, 1999

Germline mutations in the multiple endocrine neoplasia type 1 gene: evidence for frequent splicing defectsM G Mutch, W G Dilley, F Sanjurjo, et al.

Human Mutation|March 25, 1999

Mutant transcripts of the LDL receptor gene: mRNA structure and quantityO K Rødningen, S Tonstad, O D Saugstad, et al.

Human Mutation|March 25, 1999

Mutation analysis in adenylosuccinate lyase deficiency: eight novel mutations in the re-evaluated full ADSL coding sequenceS Marie, H Cuppens, M Heuterspreute, et al.

Human Mutation|March 25, 1999

A novel PCR-based approach for the detection of the Huntington disease associated trinucleotide repeat expansionI Panagopoulos, C Lassen, U Kristoffersson, et al.

Human Mutation|March 25, 1999

Mutation analysis of the BRCA1 and BRCA2 genes results in the identification of novel and recurrent mutations in 6/16 flemish families with breast and/or ovarian cancer but not in 12 sporadic patients with early-onset disease. Mutations in brief no. 224. OnlineK Claes, E Machackova, M De Vos, et al.

Human Mutation|March 1, 2000

Transthyretin Ile73Val is associated with familial amyloidotic polyneuropathy in a Bangladeshi family. Mutations in brief no. 158. OnlineD R Booth, J D Gillmore, M R Persey, et al.

Human Mutation|March 1, 2000

Niemann Pick Disease type A in Israeli Arabs: 677delT, a common novel single mutation. Mutations in brief no. 161. OnlineI Gluck, M Zeigler, R Bargal, et al.

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Showing results (901-910 of 5,769) with videos related to

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Pageof 577

Human Mutation|January 11, 2000

Evaluation of DHPLC analysis in mutational scanning of Notch3, a gene with a high G-C contentJ L Escary, M Cécillon, J Maciazek, et al.

Human Mutation|December 5, 2000

Mutational analysis of GLUT1 (SLC2A1) in glut-1 deficiency syndrome; dong wang; pamela kranz-eble; darryl C. De vivo; (Article was originally published in human mutation 16:224-231, 2000)Escary, Cecillon, Maciazek, et al.

Human Mutation|January 11, 2000

Polymorphisms in a pseudogene highly homologous to PMS2R B Chadwick, J E Meek, T W Prior, et al.

Human Mutation|March 25, 1999

Germline mutations in the multiple endocrine neoplasia type 1 gene: evidence for frequent splicing defectsM G Mutch, W G Dilley, F Sanjurjo, et al.

Human Mutation|March 25, 1999

Mutant transcripts of the LDL receptor gene: mRNA structure and quantityO K Rødningen, S Tonstad, O D Saugstad, et al.

Human Mutation|March 25, 1999

Mutation analysis in adenylosuccinate lyase deficiency: eight novel mutations in the re-evaluated full ADSL coding sequenceS Marie, H Cuppens, M Heuterspreute, et al.

Human Mutation|March 25, 1999

A novel PCR-based approach for the detection of the Huntington disease associated trinucleotide repeat expansionI Panagopoulos, C Lassen, U Kristoffersson, et al.

Human Mutation|March 25, 1999

Mutation analysis of the BRCA1 and BRCA2 genes results in the identification of novel and recurrent mutations in 6/16 flemish families with breast and/or ovarian cancer but not in 12 sporadic patients with early-onset disease. Mutations in brief no. 224. OnlineK Claes, E Machackova, M De Vos, et al.

Human Mutation|March 1, 2000

Transthyretin Ile73Val is associated with familial amyloidotic polyneuropathy in a Bangladeshi family. Mutations in brief no. 158. OnlineD R Booth, J D Gillmore, M R Persey, et al.

Human Mutation|March 1, 2000

Niemann Pick Disease type A in Israeli Arabs: 677delT, a common novel single mutation. Mutations in brief no. 161. OnlineI Gluck, M Zeigler, R Bargal, et al.

Pageof 577