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Showing results (191-200 of 200) with videos related to

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Nature Genetics|August 18, 2004
Mutations in a member of the Ras superfamily of small GTP-binding proteins causes Bardet-Biedl syndromeYanli Fan, Muneer A Esmail, Stephen J Ansley, et al.
Cell|May 13, 2004
Comparative genomics identifies a flagellar and basal body proteome that includes the BBS5 human disease geneJin Billy Li, Jantje M Gerdes, Courtney J Haycraft, et al.
Nature Genetics|September 20, 2005
Disruption of Bardet-Biedl syndrome ciliary proteins perturbs planar cell polarity in vertebratesAlison J Ross, Helen May-Simera, Erica R Eichers, et al.
Nature Communications|November 4, 2022
The inner junction protein CFAP20 functions in motile and non-motile cilia and is critical for visionPaul W Chrystal, Nils J Lambacher, Lance P Doucette, et al.
American Journal of Human Genetics|February 8, 2020
The Canadian Rare Diseases Models and Mechanisms (RDMM) Network: Connecting Understudied Genes to Model OrganismsKym M Boycott, Philippe M Campeau, Heather E Howley, et al.
Nature Genetics|May 10, 2006
The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4John A Sayer, Edgar A Otto, John F O'Toole, et al.
American Journal of Human Genetics|December 14, 2011
TMEM237 is mutated in individuals with a Joubert syndrome related disorder and expands the role of the TMEM family at the ciliary transition zoneLijia Huang, Katarzyna Szymanska, Victor L Jensen, et al.
Journal of Medical Genetics|March 15, 2017
Fifteen years of research on oral-facial-digital syndromes: from 1 to 16 causal genesAnge-Line Bruel, Brunella Franco, Yannis Duffourd, et al.
American Journal of Human Genetics|October 22, 2013
Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humansJan Halbritter, Albane A Bizet, Miriam Schmidts, et al.
Plos One|May 17, 2019
CiliaCarta: An integrated and validated compendium of ciliary genesTeunis J P van Dam, Julie Kennedy, Robin van der Lee, et al.
Pageof 20

Showing results (191-200 of 200) with videos related to

Sort By:
Pageof 20
You have reached the last page of results.This site can display upto 200 results.
Nature Genetics|August 18, 2004
Mutations in a member of the Ras superfamily of small GTP-binding proteins causes Bardet-Biedl syndromeYanli Fan, Muneer A Esmail, Stephen J Ansley, et al.
Cell|May 13, 2004
Comparative genomics identifies a flagellar and basal body proteome that includes the BBS5 human disease geneJin Billy Li, Jantje M Gerdes, Courtney J Haycraft, et al.
Nature Genetics|September 20, 2005
Disruption of Bardet-Biedl syndrome ciliary proteins perturbs planar cell polarity in vertebratesAlison J Ross, Helen May-Simera, Erica R Eichers, et al.
Nature Communications|November 4, 2022
The inner junction protein CFAP20 functions in motile and non-motile cilia and is critical for visionPaul W Chrystal, Nils J Lambacher, Lance P Doucette, et al.
American Journal of Human Genetics|February 8, 2020
The Canadian Rare Diseases Models and Mechanisms (RDMM) Network: Connecting Understudied Genes to Model OrganismsKym M Boycott, Philippe M Campeau, Heather E Howley, et al.
Nature Genetics|May 10, 2006
The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4John A Sayer, Edgar A Otto, John F O'Toole, et al.
American Journal of Human Genetics|December 14, 2011
TMEM237 is mutated in individuals with a Joubert syndrome related disorder and expands the role of the TMEM family at the ciliary transition zoneLijia Huang, Katarzyna Szymanska, Victor L Jensen, et al.
Journal of Medical Genetics|March 15, 2017
Fifteen years of research on oral-facial-digital syndromes: from 1 to 16 causal genesAnge-Line Bruel, Brunella Franco, Yannis Duffourd, et al.
American Journal of Human Genetics|October 22, 2013
Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humansJan Halbritter, Albane A Bizet, Miriam Schmidts, et al.
Plos One|May 17, 2019
CiliaCarta: An integrated and validated compendium of ciliary genesTeunis J P van Dam, Julie Kennedy, Robin van der Lee, et al.
Pageof 20