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Human mutation

Showing results (161-170 of 6,540) with videos related to

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Human Mutation|August 26, 2003
Trimethylaminuria and a human FMO3 mutation databaseDiana Hernandez, Sarah Addou, David Lee, et al.
Human Mutation|August 26, 2003
Identification and characterization of genomic rearrangements of MSH2 and MLH1 in Lynch syndrome (HNPCC) by novel techniquesHidewaki Nakagawa, Heather Hampel, Albert de la Chapelle
Human Mutation|August 26, 2003
Five novel inactivating mutations in the thyroid peroxidase gene responsible for congenital goiter and iodide organification defectCarina M Rivolta, Sebastián A Esperante, Laura Gruñeiro-Papendieck, et al.
Human Mutation|January 17, 2002
New insights into ocular albinism type 1 (OA1): Mutations and polymorphisms of the OA1 geneWilliam S Oetting
Human Mutation|January 17, 2002
Integrating mutation data and structural analysis of the TP53 tumor-suppressor proteinAndrew C R Martin, Angelo M Facchiano, Alison L Cuff, et al.
Human Mutation|January 17, 2002
A non-radioactive protein truncation test for the sensitive detection of all stop and frameshift mutationsSabine Kahmann, Peter Herter, Cornelius Kuhnen, et al.
Human Mutation|January 17, 2002
Sanfilippo syndrome in Turkey: Identification of novel mutations in subtypes A and BSerap Emre, Mugen Terzioglu, Aysegul Tokatli, et al.
Human Mutation|January 17, 2002
Glucose-6-phosphate dehydrogenase (G6PD) mutations in Thailand: G6PD Viangchan (871G>A) is the most common deficiency variant in the Thai populationI Nuchprayoon, S Sanpavat, S Nuchprayoon
Human Mutation|January 17, 2002
Seven novel sequence variants in the human low density lipoprotein receptor related protein 5 (LRP5) geneMinoru Okubo, Asako Horinishi, Dong-Ho Kim, et al.
Human Mutation|January 1, 1992
Novel Tay-Sachs disease mutations from ChinaN Akalin, H P Shi, G Vavougios, et al.
Pageof 654

Showing results (161-170 of 6,540) with videos related to

Sort By:
Pageof 654
Human Mutation|August 26, 2003
Trimethylaminuria and a human FMO3 mutation databaseDiana Hernandez, Sarah Addou, David Lee, et al.
Human Mutation|August 26, 2003
Identification and characterization of genomic rearrangements of MSH2 and MLH1 in Lynch syndrome (HNPCC) by novel techniquesHidewaki Nakagawa, Heather Hampel, Albert de la Chapelle
Human Mutation|August 26, 2003
Five novel inactivating mutations in the thyroid peroxidase gene responsible for congenital goiter and iodide organification defectCarina M Rivolta, Sebastián A Esperante, Laura Gruñeiro-Papendieck, et al.
Human Mutation|January 17, 2002
New insights into ocular albinism type 1 (OA1): Mutations and polymorphisms of the OA1 geneWilliam S Oetting
Human Mutation|January 17, 2002
Integrating mutation data and structural analysis of the TP53 tumor-suppressor proteinAndrew C R Martin, Angelo M Facchiano, Alison L Cuff, et al.
Human Mutation|January 17, 2002
A non-radioactive protein truncation test for the sensitive detection of all stop and frameshift mutationsSabine Kahmann, Peter Herter, Cornelius Kuhnen, et al.
Human Mutation|January 17, 2002
Sanfilippo syndrome in Turkey: Identification of novel mutations in subtypes A and BSerap Emre, Mugen Terzioglu, Aysegul Tokatli, et al.
Human Mutation|January 17, 2002
Glucose-6-phosphate dehydrogenase (G6PD) mutations in Thailand: G6PD Viangchan (871G>A) is the most common deficiency variant in the Thai populationI Nuchprayoon, S Sanpavat, S Nuchprayoon
Human Mutation|January 17, 2002
Seven novel sequence variants in the human low density lipoprotein receptor related protein 5 (LRP5) geneMinoru Okubo, Asako Horinishi, Dong-Ho Kim, et al.
Human Mutation|January 1, 1992
Novel Tay-Sachs disease mutations from ChinaN Akalin, H P Shi, G Vavougios, et al.
Pageof 654