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Clare V Logan

Showing results (1-10 of 48) with videos related to

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Molecular Neurobiology|November 27, 2010
Molecular genetics and pathogenic mechanisms for the severe ciliopathies: insights into neurodevelopment and pathogenesis of neural tube defectsClare V Logan, Zakia Abdel-Hamed, Colin A Johnson
American Journal of Medical Genetics. Part A|December 22, 2017
The expanding phenotype of RNU4ATAC pathogenic variants to Lowry Wood syndromeLaura S Farach, Mary E Little, Angela L Duker, et al.
Journal of Cell Science|July 15, 2009
Nesprin-2 interacts with meckelin and mediates ciliogenesis via remodelling of the actin cytoskeletonHelen R Dawe, Matthew Adams, Gabrielle Wheway, et al.
Elife|February 16, 2022
Regulation of canonical Wnt signalling by the ciliopathy protein MKS1 and the E2 ubiquitin-conjugating enzyme UBE2E1Katarzyna Szymanska, Karsten Boldt, Clare V Logan, et al.
Genomics|May 31, 2011
Illuminator, a desktop program for mutation detection using short-read clonal sequencingIan M Carr, Joanne E Morgan, Christine P Diggle, et al.
Cilia|January 29, 2013
Founder mutations and genotype-phenotype correlations in Meckel-Gruber syndrome and associated ciliopathiesKatarzyna Szymanska, Ian Berry, Clare V Logan, et al.
American Journal of Human Genetics|February 5, 2013
Identification of mutations in SLC24A4, encoding a potassium-dependent sodium/calcium exchanger, as a cause of amelogenesis imperfectaDavid A Parry, James A Poulter, Clare V Logan, et al.
Molecular Vision|June 13, 2022
Novel <i>SIX6</i> mutations cause recessively inherited congenital cataract, microcornea, and corneal opacification with or without coloboma and microphthalmiaEvangelia S Panagiotou, Narcis Fernandez-Fuentes, Layal Abi Farraj, et al.
Human Molecular Genetics|November 29, 2011
A meckelin-filamin A interaction mediates ciliogenesisMatthew Adams, Roslyn J Simms, Zakia Abdelhamed, et al.
Plos One|August 19, 2014
Mutation screening of retinal dystrophy patients by targeted capture from tagged pooled DNAs and next generation sequencingChristopher M Watson, Mohammed El-Asrag, David A Parry, et al.
Pageof 5

Showing results (1-10 of 48) with videos related to

Sort By:
Pageof 5
Molecular Neurobiology|November 27, 2010
Molecular genetics and pathogenic mechanisms for the severe ciliopathies: insights into neurodevelopment and pathogenesis of neural tube defectsClare V Logan, Zakia Abdel-Hamed, Colin A Johnson
American Journal of Medical Genetics. Part A|December 22, 2017
The expanding phenotype of RNU4ATAC pathogenic variants to Lowry Wood syndromeLaura S Farach, Mary E Little, Angela L Duker, et al.
Journal of Cell Science|July 15, 2009
Nesprin-2 interacts with meckelin and mediates ciliogenesis via remodelling of the actin cytoskeletonHelen R Dawe, Matthew Adams, Gabrielle Wheway, et al.
Elife|February 16, 2022
Regulation of canonical Wnt signalling by the ciliopathy protein MKS1 and the E2 ubiquitin-conjugating enzyme UBE2E1Katarzyna Szymanska, Karsten Boldt, Clare V Logan, et al.
Genomics|May 31, 2011
Illuminator, a desktop program for mutation detection using short-read clonal sequencingIan M Carr, Joanne E Morgan, Christine P Diggle, et al.
Cilia|January 29, 2013
Founder mutations and genotype-phenotype correlations in Meckel-Gruber syndrome and associated ciliopathiesKatarzyna Szymanska, Ian Berry, Clare V Logan, et al.
American Journal of Human Genetics|February 5, 2013
Identification of mutations in SLC24A4, encoding a potassium-dependent sodium/calcium exchanger, as a cause of amelogenesis imperfectaDavid A Parry, James A Poulter, Clare V Logan, et al.
Molecular Vision|June 13, 2022
Novel <i>SIX6</i> mutations cause recessively inherited congenital cataract, microcornea, and corneal opacification with or without coloboma and microphthalmiaEvangelia S Panagiotou, Narcis Fernandez-Fuentes, Layal Abi Farraj, et al.
Human Molecular Genetics|November 29, 2011
A meckelin-filamin A interaction mediates ciliogenesisMatthew Adams, Roslyn J Simms, Zakia Abdelhamed, et al.
Plos One|August 19, 2014
Mutation screening of retinal dystrophy patients by targeted capture from tagged pooled DNAs and next generation sequencingChristopher M Watson, Mohammed El-Asrag, David A Parry, et al.
Pageof 5