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Human mutation

Showing results (131-140 of 6,540) with videos related to

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Human Mutation|January 29, 2003
High-throughput single strand conformation polymorphism mutation detection by automated capillary array electrophoresis: validation of the methodPaal Skytt Andersen, Cathrine Jespersgaard, Jens Vuust, et al.
Human Mutation|January 29, 2003
Comprehensive scanning of the ATM gene with DOVAM-SCarolyn H Buzin, Richard A Gatti, Vu Q Nguyen, et al.
Human Mutation|January 29, 2003
Novel mutations in the TCIRG1 gene encoding the a3 subunit of the vacuolar proton pump in patients affected by infantile malignant osteopetrosisJean-Claude Scimeca, Danielle Quincey, Hugues Parrinello, et al.
Human Mutation|September 27, 2002
Novel mutations and SNPs identified in CCR2 using a new comprehensive denaturing gradient gel electrophoresis assayDesiree C Petersen, Annette Laten, Michele D Zeier, et al.
Human Mutation|September 27, 2002
High throughput mutation screening of the factor VIII gene (F8C) in hemophilia A: 37 novel mutations and genotype-phenotype correlationMichael Citron, Lynn Godmilow, Tapan Ganguly, et al.
Human Mutation|September 27, 2002
Characterization of a novel CYP2A7/CYP2A6 hybrid allele (CYP2A6*12) that causes reduced CYP2A6 activityMikael Oscarson, Roman A McLellan, Vendela Asp, et al.
Human Mutation|September 27, 2002
Three novel COL4A4 mutations resulting in stop codons and their clinical effects in autosomal recessive Alport syndromeHayat Dagher, Yan Yan Wang, Rob Fassett, et al.
Human Mutation|September 27, 2002
Broad phenotypic variability in a single pedigree with a novel 1410delC mutation in the PST domain of the PAX6 geneMichèle M Sale, Jamie E Craig, Jacinta C Charlesworth, et al.
Human Mutation|July 19, 2002
The UMD-LDLR database: additions to the software and 490 new entries to the databaseLudovic Villéger, Marianne Abifadel, Delphine Allard, et al.
Human Mutation|July 19, 2002
Mutation analysis of the spastin gene (SPG4) in patients in Germany with autosomal dominant hereditary spastic paraplegiaS Sauter, B Miterski, S Klimpe, et al.
Pageof 654

Showing results (131-140 of 6,540) with videos related to

Sort By:
Pageof 654
Human Mutation|January 29, 2003
High-throughput single strand conformation polymorphism mutation detection by automated capillary array electrophoresis: validation of the methodPaal Skytt Andersen, Cathrine Jespersgaard, Jens Vuust, et al.
Human Mutation|January 29, 2003
Comprehensive scanning of the ATM gene with DOVAM-SCarolyn H Buzin, Richard A Gatti, Vu Q Nguyen, et al.
Human Mutation|January 29, 2003
Novel mutations in the TCIRG1 gene encoding the a3 subunit of the vacuolar proton pump in patients affected by infantile malignant osteopetrosisJean-Claude Scimeca, Danielle Quincey, Hugues Parrinello, et al.
Human Mutation|September 27, 2002
Novel mutations and SNPs identified in CCR2 using a new comprehensive denaturing gradient gel electrophoresis assayDesiree C Petersen, Annette Laten, Michele D Zeier, et al.
Human Mutation|September 27, 2002
High throughput mutation screening of the factor VIII gene (F8C) in hemophilia A: 37 novel mutations and genotype-phenotype correlationMichael Citron, Lynn Godmilow, Tapan Ganguly, et al.
Human Mutation|September 27, 2002
Characterization of a novel CYP2A7/CYP2A6 hybrid allele (CYP2A6*12) that causes reduced CYP2A6 activityMikael Oscarson, Roman A McLellan, Vendela Asp, et al.
Human Mutation|September 27, 2002
Three novel COL4A4 mutations resulting in stop codons and their clinical effects in autosomal recessive Alport syndromeHayat Dagher, Yan Yan Wang, Rob Fassett, et al.
Human Mutation|September 27, 2002
Broad phenotypic variability in a single pedigree with a novel 1410delC mutation in the PST domain of the PAX6 geneMichèle M Sale, Jamie E Craig, Jacinta C Charlesworth, et al.
Human Mutation|July 19, 2002
The UMD-LDLR database: additions to the software and 490 new entries to the databaseLudovic Villéger, Marianne Abifadel, Delphine Allard, et al.
Human Mutation|July 19, 2002
Mutation analysis of the spastin gene (SPG4) in patients in Germany with autosomal dominant hereditary spastic paraplegiaS Sauter, B Miterski, S Klimpe, et al.
Pageof 654