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Showing results (171-180 of 194) with videos related to

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The Journal of Clinical Investigation|March 27, 2012
Combining Cep290 and Mkks ciliopathy alleles in mice rescues sensory defects and restores ciliogenesisRivka A Rachel, Helen L May-Simera, Shobi Veleri, 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.
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.
Brain : a Journal of Neurology|September 12, 2013
ARNT2 mutation causes hypopituitarism, post-natal microcephaly, visual and renal anomaliesEmma A Webb, Angham AlMutair, Daniel Kelberman, et al.
Medrxiv : the Preprint Server for Health Sciences|March 3, 2023
<i>IFT74</i> variants cause skeletal ciliopathy and motile cilia defects in mice and humansZeineb Bakey, Oscar A Cabrera, Julia Hoefele, et al.
Plos Genetics|June 14, 2023
IFT74 variants cause skeletal ciliopathy and motile cilia defects in mice and humansZeineb Bakey, Oscar A Cabrera, Julia Hoefele, et al.
Nature Communications|June 6, 2015
TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transportMiriam Schmidts, Yuqing Hou, Claudio R Cortés, et al.
Nature Communications|March 30, 2016
Corrigendum: TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transportMiriam Schmidts, Yuqing Hou, Claudio R Cortés, et al.
Journal of Medical Genetics|January 8, 2015
The kinetochore protein, CENPF, is mutated in human ciliopathy and microcephaly phenotypesAoife M Waters, Rowan Asfahani, Paula Carroll, et al.
Pageof 20

Showing results (171-180 of 194) with videos related to

Sort By:
Pageof 20
The Journal of Clinical Investigation|March 27, 2012
Combining Cep290 and Mkks ciliopathy alleles in mice rescues sensory defects and restores ciliogenesisRivka A Rachel, Helen L May-Simera, Shobi Veleri, 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.
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.
Brain : a Journal of Neurology|September 12, 2013
ARNT2 mutation causes hypopituitarism, post-natal microcephaly, visual and renal anomaliesEmma A Webb, Angham AlMutair, Daniel Kelberman, et al.
Medrxiv : the Preprint Server for Health Sciences|March 3, 2023
<i>IFT74</i> variants cause skeletal ciliopathy and motile cilia defects in mice and humansZeineb Bakey, Oscar A Cabrera, Julia Hoefele, et al.
Plos Genetics|June 14, 2023
IFT74 variants cause skeletal ciliopathy and motile cilia defects in mice and humansZeineb Bakey, Oscar A Cabrera, Julia Hoefele, et al.
Nature Communications|June 6, 2015
TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transportMiriam Schmidts, Yuqing Hou, Claudio R Cortés, et al.
Nature Communications|March 30, 2016
Corrigendum: TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transportMiriam Schmidts, Yuqing Hou, Claudio R Cortés, et al.
Journal of Medical Genetics|January 8, 2015
The kinetochore protein, CENPF, is mutated in human ciliopathy and microcephaly phenotypesAoife M Waters, Rowan Asfahani, Paula Carroll, et al.
Pageof 20