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Ian G Phelps

Showing results (11-20 of 25) with videos related to

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Journal of Medical Genetics|January 14, 2012
Genotype-phenotype correlation in CC2D2A-related Joubert syndrome reveals an association with ventriculomegaly and seizuresRuxandra Bachmann-Gagescu, Gisele E Ishak, Jennifer C Dempsey, et al.
American Journal of Human Genetics|April 5, 2016
Recessive Inactivating Mutations in TBCK, Encoding a Rab GTPase-Activating Protein, Cause Severe Infantile Syndromic EncephalopathyJessica X Chong, Viviana Caputo, Ian G Phelps, et al.
Cilia|March 28, 2017
Abnormal glycosylation in Joubert syndrome type 10Megan S Kane, Mariska Davids, Michelle R Bond, et al.
American Journal of Human Genetics|May 15, 2012
GPSM2 mutations cause the brain malformations and hearing loss in Chudley-McCullough syndromeDan Doherty, Albert E Chudley, Gail Coghlan, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 27, 2017
Molecular genetic findings and clinical correlations in 100 patients with Joubert syndrome and related disorders prospectively evaluated at a single centerThierry Vilboux, Daniel A Doherty, Ian A Glass, et al.
Plos Genetics|October 21, 2015
The Ciliopathy Protein CC2D2A Associates with NINL and Functions in RAB8-MICAL3-Regulated Vesicle TraffickingRuxandra Bachmann-Gagescu, Margo Dona, Lisette Hetterschijt, et al.
American Journal of Human Genetics|August 9, 2014
Mutations in LAMA1 cause cerebellar dysplasia and cysts with and without retinal dystrophyKimberly A Aldinger, Stephen J Mosca, Martine Tétreault, et al.
Nature Neuroscience|June 18, 2021
Spatial and cell type transcriptional landscape of human cerebellar developmentKimberly A Aldinger, Zachary Thomson, Ian G Phelps, et al.
Science (New York, N.Y.)|November 20, 2012
Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disordersBrian J O'Roak, Laura Vives, Wenqing Fu, et al.
American Journal of Human Genetics|June 20, 2017
Mutations in ARMC9, which Encodes a Basal Body Protein, Cause Joubert Syndrome in Humans and Ciliopathy Phenotypes in ZebrafishJulie C Van De Weghe, Tamara D S Rusterholz, Brooke Latour, et al.
Pageof 3

Showing results (11-20 of 25) with videos related to

Sort By:
Pageof 3
Journal of Medical Genetics|January 14, 2012
Genotype-phenotype correlation in CC2D2A-related Joubert syndrome reveals an association with ventriculomegaly and seizuresRuxandra Bachmann-Gagescu, Gisele E Ishak, Jennifer C Dempsey, et al.
American Journal of Human Genetics|April 5, 2016
Recessive Inactivating Mutations in TBCK, Encoding a Rab GTPase-Activating Protein, Cause Severe Infantile Syndromic EncephalopathyJessica X Chong, Viviana Caputo, Ian G Phelps, et al.
Cilia|March 28, 2017
Abnormal glycosylation in Joubert syndrome type 10Megan S Kane, Mariska Davids, Michelle R Bond, et al.
American Journal of Human Genetics|May 15, 2012
GPSM2 mutations cause the brain malformations and hearing loss in Chudley-McCullough syndromeDan Doherty, Albert E Chudley, Gail Coghlan, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 27, 2017
Molecular genetic findings and clinical correlations in 100 patients with Joubert syndrome and related disorders prospectively evaluated at a single centerThierry Vilboux, Daniel A Doherty, Ian A Glass, et al.
Plos Genetics|October 21, 2015
The Ciliopathy Protein CC2D2A Associates with NINL and Functions in RAB8-MICAL3-Regulated Vesicle TraffickingRuxandra Bachmann-Gagescu, Margo Dona, Lisette Hetterschijt, et al.
American Journal of Human Genetics|August 9, 2014
Mutations in LAMA1 cause cerebellar dysplasia and cysts with and without retinal dystrophyKimberly A Aldinger, Stephen J Mosca, Martine Tétreault, et al.
Nature Neuroscience|June 18, 2021
Spatial and cell type transcriptional landscape of human cerebellar developmentKimberly A Aldinger, Zachary Thomson, Ian G Phelps, et al.
Science (New York, N.Y.)|November 20, 2012
Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disordersBrian J O'Roak, Laura Vives, Wenqing Fu, et al.
American Journal of Human Genetics|June 20, 2017
Mutations in ARMC9, which Encodes a Basal Body Protein, Cause Joubert Syndrome in Humans and Ciliopathy Phenotypes in ZebrafishJulie C Van De Weghe, Tamara D S Rusterholz, Brooke Latour, et al.
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