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Human mutation

Showing results (321-330 of 6,541) with videos related to

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Human Mutation|October 2, 2004
A paradigm for single nucleotide polymorphism analysis: the case of the acetylcholinesterase geneYehudit Hasin, Nili Avidan, Dani Bercovich, et al.
Human Mutation|October 2, 2004
Germline mutations of the POU6F2 gene in Wilms tumors with loss of heterozygosity on chromosome 7p14Daniela Perotti, Giovanna De Vecchi, Maria A Testi, et al.
Human Mutation|October 2, 2004
Molecular analysis of SMA patients without homozygous SMN1 deletions using a new strategy for identification of SMN1 subtle mutationsOlivier Clermont, Philippe Burlet, Paule Benit, et al.
Human Mutation|October 2, 2004
Spectrum of PTCH mutations in Italian nevoid basal cell-carcinoma syndrome patients: identification of thirteen novel allelesMaria Savino, Maria d'Apolito, Vincenza Formica, et al.
Human Mutation|October 2, 2004
Homeologous recombination between AluSx-sequences as a cause of hemophiliaLiliana C Rossetti, Anne Goodeve, Irene B Larripa, et al.
Human Mutation|October 2, 2004
A point mutation in the lariat branch point of intron 6 of NPC1 as the cause of abnormal pre-mRNA splicing in Niemann-Pick type C diseaseEnza Di Leo, Francesca Panico, Patrizia Tarugi, et al.
Human Mutation|October 2, 2004
ABCC6 mutations in Italian families affected by pseudoxanthoma elasticum (PXE)Dealba Gheduzzi, Rita Guidetti, Claudia Anzivino, et al.
Human Mutation|May 10, 2005
Diagnostic DHPLC Quality Assurance (DDQA): a collaborative approach to the generation of validated and standardized methods for DHPLC-based mutation screening in clinical genetics laboratoriesEls Schollen, Elisabeth Dequeker, Shirley McQuaid, et al.
Human Mutation|December 8, 2004
Reassessment of the TP53 mutation database in human disease by data mining with a library of TP53 missense mutationsThierry Soussi, Shunsuke Kato, Pierre P Levy, et al.
Human Mutation|December 8, 2004
Variations in human HM74 (GPR109B) and HM74A (GPR109A) niacin receptorsChristian Zellner, Clive R Pullinger, Bradley E Aouizerat, et al.
Pageof 655

Showing results (321-330 of 6,541) with videos related to

Sort By:
Pageof 655
Human Mutation|October 2, 2004
A paradigm for single nucleotide polymorphism analysis: the case of the acetylcholinesterase geneYehudit Hasin, Nili Avidan, Dani Bercovich, et al.
Human Mutation|October 2, 2004
Germline mutations of the POU6F2 gene in Wilms tumors with loss of heterozygosity on chromosome 7p14Daniela Perotti, Giovanna De Vecchi, Maria A Testi, et al.
Human Mutation|October 2, 2004
Molecular analysis of SMA patients without homozygous SMN1 deletions using a new strategy for identification of SMN1 subtle mutationsOlivier Clermont, Philippe Burlet, Paule Benit, et al.
Human Mutation|October 2, 2004
Spectrum of PTCH mutations in Italian nevoid basal cell-carcinoma syndrome patients: identification of thirteen novel allelesMaria Savino, Maria d'Apolito, Vincenza Formica, et al.
Human Mutation|October 2, 2004
Homeologous recombination between AluSx-sequences as a cause of hemophiliaLiliana C Rossetti, Anne Goodeve, Irene B Larripa, et al.
Human Mutation|October 2, 2004
A point mutation in the lariat branch point of intron 6 of NPC1 as the cause of abnormal pre-mRNA splicing in Niemann-Pick type C diseaseEnza Di Leo, Francesca Panico, Patrizia Tarugi, et al.
Human Mutation|October 2, 2004
ABCC6 mutations in Italian families affected by pseudoxanthoma elasticum (PXE)Dealba Gheduzzi, Rita Guidetti, Claudia Anzivino, et al.
Human Mutation|May 10, 2005
Diagnostic DHPLC Quality Assurance (DDQA): a collaborative approach to the generation of validated and standardized methods for DHPLC-based mutation screening in clinical genetics laboratoriesEls Schollen, Elisabeth Dequeker, Shirley McQuaid, et al.
Human Mutation|December 8, 2004
Reassessment of the TP53 mutation database in human disease by data mining with a library of TP53 missense mutationsThierry Soussi, Shunsuke Kato, Pierre P Levy, et al.
Human Mutation|December 8, 2004
Variations in human HM74 (GPR109B) and HM74A (GPR109A) niacin receptorsChristian Zellner, Clive R Pullinger, Bradley E Aouizerat, et al.
Pageof 655