Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Filters

Human mutation

Showing results (711-720 of 6,544) with videos related to

Pageof 655
Sort By:
Human Mutation|October 27, 2007
Type 2 diabetes-associated fatty acid binding protein 2 promoter haplotypes are differentially regulated by GATA factorsMaja Klapper, Mike Böhme, Inke Nitz, et al.
Human Mutation|November 15, 2007
Pathogenic validation of unique germline intronic variants of RB1 in retinoblastoma patients using minigenesAngelo Gámez-Pozo, Itziar Palacios, Milica Kontic, et al.
Human Mutation|November 15, 2007
Mutations in LCA5 are an uncommon cause of Leber congenital amaurosis (LCA) type IISylvie Gerber, Sylvain Hanein, Isabelle Perrault, et al.
Human Mutation|June 15, 2007
Molecular heterogeneity in fetal forms of type II lissencephalyC Bouchet, M Gonzales, S Vuillaumier-Barrot, et al.
Human Mutation|June 15, 2007
Streamlined assessment of gene variants by high resolution melt profiling utilizing the ornithine transcarbamylase gene as a model systemSteven F Dobrowolski, Clinton E Ellingson, Ljubica Caldovic, et al.
Human Mutation|June 26, 2007
Identification of novel ATP7B gene mutations and their functional roles in Korean patients with Wilson diseaseSangwook Park, Jung-Young Park, Gu-Hwan Kim, et al.
Human Mutation|August 11, 2007
Contribution of BRCA1 and BRCA2 mutations to inherited ovarian cancerSusan J Ramus, Patricia A Harrington, Carole Pye, et al.
Human Mutation|August 19, 2007
Representational oligonucleotide microarray analysis (ROMA) and comparison of binning and change-point methods of analysis: application to detection of del22q11.2 (DiGeorge) syndromeChristopher M Stanczak, Zugen Chen, Stanley F Nelson, et al.
Human Mutation|August 19, 2007
Five novel mutations in steroidogenic factor 1 (SF1, NR5A1) in 46,XY patients with severe underandrogenization but without adrenal insufficiencyBirgit Köhler, Lin Lin, Bruno Ferraz-de-Souza, et al.
Human Mutation|April 11, 2012
SURF1-associated Leigh syndrome: a case series and novel mutationsInn-Chi Lee, Ayman W El-Hattab, Jing Wang, et al.
Pageof 655

Showing results (711-720 of 6,544) with videos related to

Sort By:
Pageof 655
Human Mutation|October 27, 2007
Type 2 diabetes-associated fatty acid binding protein 2 promoter haplotypes are differentially regulated by GATA factorsMaja Klapper, Mike Böhme, Inke Nitz, et al.
Human Mutation|November 15, 2007
Pathogenic validation of unique germline intronic variants of RB1 in retinoblastoma patients using minigenesAngelo Gámez-Pozo, Itziar Palacios, Milica Kontic, et al.
Human Mutation|November 15, 2007
Mutations in LCA5 are an uncommon cause of Leber congenital amaurosis (LCA) type IISylvie Gerber, Sylvain Hanein, Isabelle Perrault, et al.
Human Mutation|June 15, 2007
Molecular heterogeneity in fetal forms of type II lissencephalyC Bouchet, M Gonzales, S Vuillaumier-Barrot, et al.
Human Mutation|June 15, 2007
Streamlined assessment of gene variants by high resolution melt profiling utilizing the ornithine transcarbamylase gene as a model systemSteven F Dobrowolski, Clinton E Ellingson, Ljubica Caldovic, et al.
Human Mutation|June 26, 2007
Identification of novel ATP7B gene mutations and their functional roles in Korean patients with Wilson diseaseSangwook Park, Jung-Young Park, Gu-Hwan Kim, et al.
Human Mutation|August 11, 2007
Contribution of BRCA1 and BRCA2 mutations to inherited ovarian cancerSusan J Ramus, Patricia A Harrington, Carole Pye, et al.
Human Mutation|August 19, 2007
Representational oligonucleotide microarray analysis (ROMA) and comparison of binning and change-point methods of analysis: application to detection of del22q11.2 (DiGeorge) syndromeChristopher M Stanczak, Zugen Chen, Stanley F Nelson, et al.
Human Mutation|August 19, 2007
Five novel mutations in steroidogenic factor 1 (SF1, NR5A1) in 46,XY patients with severe underandrogenization but without adrenal insufficiencyBirgit Köhler, Lin Lin, Bruno Ferraz-de-Souza, et al.
Human Mutation|April 11, 2012
SURF1-associated Leigh syndrome: a case series and novel mutationsInn-Chi Lee, Ayman W El-Hattab, Jing Wang, et al.
Pageof 655