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Val C Sheffield

Showing results (111-120 of 193) with videos related to

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The New England Journal of Medicine|July 23, 2004
Missense variations in the fibulin 5 gene and age-related macular degenerationEdwin M Stone, Terry A Braun, Stephen R Russell, et al.
Journal of Cell Science|April 11, 2013
BBS7 is required for BBSome formation and its absence in mice results in Bardet-Biedl syndrome phenotypes and selective abnormalities in membrane protein traffickingQihong Zhang, Darryl Nishimura, Tim Vogel, et al.
Plos Genetics|March 25, 2010
Identification and functional analysis of the vision-specific BBS3 (ARL6) long isoformPamela R Pretorius, Lisa M Baye, Darryl Y Nishimura, et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience|July 26, 2022
Disruption of Dopamine Receptor 1 Localization to Primary Cilia Impairs Signaling in Striatal NeuronsToneisha Stubbs, Andrew Koemeter-Cox, James I Bingman, et al.
Plos Genetics|August 7, 2015
Calmodulin Methyltransferase Is Required for Growth, Muscle Strength, Somatosensory Development and Brain FunctionSitvanit Haziza, Roberta Magnani, Dima Lan, et al.
Ophthalmology|March 8, 2003
Clinicopathologic effects of mutant GUCY2D in Leber congenital amaurosisAnn H Milam, Mark R Barakat, Nisha Gupta, et al.
Human Molecular Genetics|April 18, 2003
Crumbs homolog 1 (CRB1) mutations result in a thick human retina with abnormal laminationSamuel G Jacobson, Artur V Cideciyan, Tomas S Aleman, et al.
The Journal of Clinical Endocrinology and Metabolism|January 23, 2013
Varied clinical presentations of seven patients with mutations in CYP11A1 encoding the cholesterol side-chain cleavage enzyme, P450sccMeng Kian Tee, Michal Abramsohn, Neta Loewenthal, et al.
Molecular Metabolism|September 28, 2024
Corrigendum to "The BBSome regulates mitochondria dynamics and function molecular metabolism" [Mol Metabol 67 (2023) 101654]Deng-Fu Guo, Ronald A Merrill, Lan Qian, et al.
Developmental Cell|December 17, 2008
A BBSome subunit links ciliogenesis, microtubule stability, and acetylationAlexander V Loktev, Qihong Zhang, John S Beck, et al.
Pageof 20

Showing results (111-120 of 193) with videos related to

Sort By:
Pageof 20
The New England Journal of Medicine|July 23, 2004
Missense variations in the fibulin 5 gene and age-related macular degenerationEdwin M Stone, Terry A Braun, Stephen R Russell, et al.
Journal of Cell Science|April 11, 2013
BBS7 is required for BBSome formation and its absence in mice results in Bardet-Biedl syndrome phenotypes and selective abnormalities in membrane protein traffickingQihong Zhang, Darryl Nishimura, Tim Vogel, et al.
Plos Genetics|March 25, 2010
Identification and functional analysis of the vision-specific BBS3 (ARL6) long isoformPamela R Pretorius, Lisa M Baye, Darryl Y Nishimura, et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience|July 26, 2022
Disruption of Dopamine Receptor 1 Localization to Primary Cilia Impairs Signaling in Striatal NeuronsToneisha Stubbs, Andrew Koemeter-Cox, James I Bingman, et al.
Plos Genetics|August 7, 2015
Calmodulin Methyltransferase Is Required for Growth, Muscle Strength, Somatosensory Development and Brain FunctionSitvanit Haziza, Roberta Magnani, Dima Lan, et al.
Ophthalmology|March 8, 2003
Clinicopathologic effects of mutant GUCY2D in Leber congenital amaurosisAnn H Milam, Mark R Barakat, Nisha Gupta, et al.
Human Molecular Genetics|April 18, 2003
Crumbs homolog 1 (CRB1) mutations result in a thick human retina with abnormal laminationSamuel G Jacobson, Artur V Cideciyan, Tomas S Aleman, et al.
The Journal of Clinical Endocrinology and Metabolism|January 23, 2013
Varied clinical presentations of seven patients with mutations in CYP11A1 encoding the cholesterol side-chain cleavage enzyme, P450sccMeng Kian Tee, Michal Abramsohn, Neta Loewenthal, et al.
Molecular Metabolism|September 28, 2024
Corrigendum to "The BBSome regulates mitochondria dynamics and function molecular metabolism" [Mol Metabol 67 (2023) 101654]Deng-Fu Guo, Ronald A Merrill, Lan Qian, et al.
Developmental Cell|December 17, 2008
A BBSome subunit links ciliogenesis, microtubule stability, and acetylationAlexander V Loktev, Qihong Zhang, John S Beck, et al.
Pageof 20