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Clare V Logan

Showing results (21-30 of 48) with videos related to

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Nature Genetics|March 12, 2014
Mutations in TJP2 cause progressive cholestatic liver diseaseMelissa Sambrotta, Sandra Strautnieks, Efterpi Papouli, et al.
Nature Genetics|November 28, 2018
Gain-of-function DNMT3A mutations cause microcephalic dwarfism and hypermethylation of Polycomb-regulated regionsPatricia Heyn, Clare V Logan, Adeline Fluteau, et al.
Human Molecular Genetics|November 10, 2011
Next generation sequencing identifies mutations in Atonal homolog 7 (ATOH7) in families with global eye developmental defectsKamron Khan, Clare V Logan, Martin McKibbin, et al.
Nature Genetics|November 22, 2011
Mutations in MEGF10, a regulator of satellite cell myogenesis, cause early onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD)Clare V Logan, Barbara Lucke, Caroline Pottinger, et al.
American Journal of Human Genetics|August 21, 2012
Mutations in C4orf26, encoding a peptide with in vitro hydroxyapatite crystal nucleation and growth activity, cause amelogenesis imperfectaDavid A Parry, Steven J Brookes, Clare V Logan, et al.
American Journal of Human Genetics|May 5, 2009
Loss of the metalloprotease ADAM9 leads to cone-rod dystrophy in humans and retinal degeneration in miceDavid A Parry, Carmel Toomes, Lina Bida, et al.
American Journal of Human Genetics|August 5, 2008
Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndromeVincent Cantagrel, Jennifer L Silhavy, Stephanie L Bielas, et al.
American Journal of Human Genetics|September 13, 2011
Homozygous mutations in PXDN cause congenital cataract, corneal opacity, and developmental glaucomaKamron Khan, Adam Rudkin, David A Parry, et al.
Nature Genetics|July 31, 2012
Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degenerationRobert K Koenekoop, Hui Wang, Jacek Majewski, et al.
Nature Genetics|January 17, 2012
CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the ciliumJi Eun Lee, Jennifer L Silhavy, Maha S Zaki, et al.
Pageof 5

Showing results (21-30 of 48) with videos related to

Sort By:
Pageof 5
Nature Genetics|March 12, 2014
Mutations in TJP2 cause progressive cholestatic liver diseaseMelissa Sambrotta, Sandra Strautnieks, Efterpi Papouli, et al.
Nature Genetics|November 28, 2018
Gain-of-function DNMT3A mutations cause microcephalic dwarfism and hypermethylation of Polycomb-regulated regionsPatricia Heyn, Clare V Logan, Adeline Fluteau, et al.
Human Molecular Genetics|November 10, 2011
Next generation sequencing identifies mutations in Atonal homolog 7 (ATOH7) in families with global eye developmental defectsKamron Khan, Clare V Logan, Martin McKibbin, et al.
Nature Genetics|November 22, 2011
Mutations in MEGF10, a regulator of satellite cell myogenesis, cause early onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD)Clare V Logan, Barbara Lucke, Caroline Pottinger, et al.
American Journal of Human Genetics|August 21, 2012
Mutations in C4orf26, encoding a peptide with in vitro hydroxyapatite crystal nucleation and growth activity, cause amelogenesis imperfectaDavid A Parry, Steven J Brookes, Clare V Logan, et al.
American Journal of Human Genetics|May 5, 2009
Loss of the metalloprotease ADAM9 leads to cone-rod dystrophy in humans and retinal degeneration in miceDavid A Parry, Carmel Toomes, Lina Bida, et al.
American Journal of Human Genetics|August 5, 2008
Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndromeVincent Cantagrel, Jennifer L Silhavy, Stephanie L Bielas, et al.
American Journal of Human Genetics|September 13, 2011
Homozygous mutations in PXDN cause congenital cataract, corneal opacity, and developmental glaucomaKamron Khan, Adam Rudkin, David A Parry, et al.
Nature Genetics|July 31, 2012
Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degenerationRobert K Koenekoop, Hui Wang, Jacek Majewski, et al.
Nature Genetics|January 17, 2012
CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the ciliumJi Eun Lee, Jennifer L Silhavy, Maha S Zaki, et al.
Pageof 5