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Val C Sheffield

Showing results (81-90 of 193) with videos related to

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Proceedings of the National Academy of Sciences of the United States of America|December 6, 2011
Bardet-Biedl syndrome 3 (Bbs3) knockout mouse model reveals common BBS-associated phenotypes and Bbs3 unique phenotypesQihong Zhang, Darryl Nishimura, Seongjin Seo, et al.
Human Molecular Genetics|July 22, 2010
Deducing the pathogenic contribution of recessive ABCA4 alleles in an outbred populationEmily I Schindler, Erik L Nylen, Audrey C Ko, et al.
Investigative Ophthalmology & Visual Science|June 27, 2007
Gene expression analysis of photoreceptor cell loss in bbs4-knockout mice reveals an early stress gene response and photoreceptor cell damageRuth E Swiderski, Darryl Y Nishimura, Robert F Mullins, et al.
Plos Genetics|March 2, 2016
The BBSome Controls Energy Homeostasis by Mediating the Transport of the Leptin Receptor to the Plasma MembraneDeng-Fu Guo, Huxing Cui, Qihong Zhang, et al.
Human Molecular Genetics|April 3, 2008
Genetic interaction between Bardet-Biedl syndrome genes and implications for limb patterningMarwan K Tayeh, Hsan-Jan Yen, John S Beck, et al.
Human Molecular Genetics|August 21, 2009
Mice defective in Trpm6 show embryonic mortality and neural tube defectsRoxanne Y Walder, Baoli Yang, John B Stokes, et al.
American Journal of Medical Genetics. Part A|January 19, 2008
Novel mutations in BBS5 highlight the importance of this gene in non-Caucasian Bardet-Biedl syndrome patientsTina Duelund Hjortshøj, Karen Grønskov, Alisdair R Philp, et al.
Human Molecular Genetics|March 25, 2016
Mutations in C8ORF37 cause Bardet Biedl syndrome (BBS21)Elise Heon, Gunhee Kim, Sophie Qin, et al.
Journal of Glaucoma|February 1, 2002
Genetic analysis of PITX2 and FOXC1 in Rieger Syndrome patients from BrazilAdriana Silva Borges, Remo Susanna, José Carlos Eudes Carani, et al.
Human Mutation|January 6, 2006
Prioritizing regions of candidate genes for efficient mutation screeningTerry A Braun, Suma P Shankar, Steve Davis, et al.
Pageof 20

Showing results (81-90 of 193) with videos related to

Sort By:
Pageof 20
Proceedings of the National Academy of Sciences of the United States of America|December 6, 2011
Bardet-Biedl syndrome 3 (Bbs3) knockout mouse model reveals common BBS-associated phenotypes and Bbs3 unique phenotypesQihong Zhang, Darryl Nishimura, Seongjin Seo, et al.
Human Molecular Genetics|July 22, 2010
Deducing the pathogenic contribution of recessive ABCA4 alleles in an outbred populationEmily I Schindler, Erik L Nylen, Audrey C Ko, et al.
Investigative Ophthalmology & Visual Science|June 27, 2007
Gene expression analysis of photoreceptor cell loss in bbs4-knockout mice reveals an early stress gene response and photoreceptor cell damageRuth E Swiderski, Darryl Y Nishimura, Robert F Mullins, et al.
Plos Genetics|March 2, 2016
The BBSome Controls Energy Homeostasis by Mediating the Transport of the Leptin Receptor to the Plasma MembraneDeng-Fu Guo, Huxing Cui, Qihong Zhang, et al.
Human Molecular Genetics|April 3, 2008
Genetic interaction between Bardet-Biedl syndrome genes and implications for limb patterningMarwan K Tayeh, Hsan-Jan Yen, John S Beck, et al.
Human Molecular Genetics|August 21, 2009
Mice defective in Trpm6 show embryonic mortality and neural tube defectsRoxanne Y Walder, Baoli Yang, John B Stokes, et al.
American Journal of Medical Genetics. Part A|January 19, 2008
Novel mutations in BBS5 highlight the importance of this gene in non-Caucasian Bardet-Biedl syndrome patientsTina Duelund Hjortshøj, Karen Grønskov, Alisdair R Philp, et al.
Human Molecular Genetics|March 25, 2016
Mutations in C8ORF37 cause Bardet Biedl syndrome (BBS21)Elise Heon, Gunhee Kim, Sophie Qin, et al.
Journal of Glaucoma|February 1, 2002
Genetic analysis of PITX2 and FOXC1 in Rieger Syndrome patients from BrazilAdriana Silva Borges, Remo Susanna, José Carlos Eudes Carani, et al.
Human Mutation|January 6, 2006
Prioritizing regions of candidate genes for efficient mutation screeningTerry A Braun, Suma P Shankar, Steve Davis, et al.
Pageof 20