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Colin A Johnson

Showing results (81-90 of 132) 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.
Schizophrenia Bulletin|November 7, 2020
A Recessively Inherited Risk Locus on Chromosome 13q22-31 Conferring Susceptibility to SchizophreniaTariq Mahmood, Mohammed E El-Asrag, James A Poulter, et al.
American Journal of Human Genetics|December 24, 2013
Mutations in CSPP1, encoding a core centrosomal protein, cause a range of ciliopathy phenotypes in humansRanad Shaheen, Hanan E Shamseldin, Catrina M Loucks, 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.
Development (Cambridge, England)|October 9, 2014
ATMIN is a transcriptional regulator of both lung morphogenesis and ciliogenesisParaskevi Goggolidou, Jonathan L Stevens, Francesco Agueci, 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 14, 2012
TCTN3 mutations cause Mohr-Majewski syndromeSophie Thomas, Marine Legendre, Sophie Saunier, et al.
Nature Medicine|September 4, 2012
Gene therapy rescues cilia defects and restores olfactory function in a mammalian ciliopathy modelJeremy C McIntyre, Erica E Davis, Ariell Joiner, 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.
Nature Genetics|June 20, 2006
PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain ironNeil V Morgan, Shawn K Westaway, Jenny E V Morton, et al.
Pageof 14

Showing results (81-90 of 132) with videos related to

Sort By:
Pageof 14
Nature Genetics|March 12, 2014
Mutations in TJP2 cause progressive cholestatic liver diseaseMelissa Sambrotta, Sandra Strautnieks, Efterpi Papouli, et al.
Schizophrenia Bulletin|November 7, 2020
A Recessively Inherited Risk Locus on Chromosome 13q22-31 Conferring Susceptibility to SchizophreniaTariq Mahmood, Mohammed E El-Asrag, James A Poulter, et al.
American Journal of Human Genetics|December 24, 2013
Mutations in CSPP1, encoding a core centrosomal protein, cause a range of ciliopathy phenotypes in humansRanad Shaheen, Hanan E Shamseldin, Catrina M Loucks, 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.
Development (Cambridge, England)|October 9, 2014
ATMIN is a transcriptional regulator of both lung morphogenesis and ciliogenesisParaskevi Goggolidou, Jonathan L Stevens, Francesco Agueci, 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 14, 2012
TCTN3 mutations cause Mohr-Majewski syndromeSophie Thomas, Marine Legendre, Sophie Saunier, et al.
Nature Medicine|September 4, 2012
Gene therapy rescues cilia defects and restores olfactory function in a mammalian ciliopathy modelJeremy C McIntyre, Erica E Davis, Ariell Joiner, 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.
Nature Genetics|June 20, 2006
PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain ironNeil V Morgan, Shawn K Westaway, Jenny E V Morton, et al.
Pageof 14