Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Filters

Colin A Johnson

Showing results (41-50 of 132) with videos related to

Pageof 14
Sort By:
Biorxiv : the Preprint Server for Biology|September 16, 2024
Two functional forms of the Meckel-Gruber syndrome protein TMEM67 generated by proteolytic cleavage by ADAMTS9 mediate Wnt signaling and ciliogenesisManu Ahmed, Sydney Fischer, Karyn L Robert, et al.
Human Genetics|June 17, 2005
Locus heterogeneity in autosomal recessive congenital cataracts: linkage to 9q and germline HSF4 mutationsTim Forshew, Colin A Johnson, Shagufta Khaliq, et al.
Biology|June 26, 2025
AgileMultiIdeogram: Rapid Identification and Visualization of Autozygous Regions Using Illumina Short-Read Sequencing DataChristopher M Watson, Carolina Lascelles, Morag Raynor, et al.
Developmental Cell|December 3, 2014
IFT27 links the BBSome to IFT for maintenance of the ciliary signaling compartmentThibaut Eguether, Jovenal T San Agustin, Brian T Keady, et al.
Science (New York, N.Y.)|July 31, 2010
Planar cell polarity acts through septins to control collective cell movement and ciliogenesisSu Kyoung Kim, Asako Shindo, Tae Joo Park, et al.
American Journal of Human Genetics|December 31, 2005
A germline mutation in BLOC1S3/reduced pigmentation causes a novel variant of Hermansky-Pudlak syndrome (HPS8)Neil V Morgan, Shanaz Pasha, Colin A Johnson, 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.
International Journal of Gynecological Cancer : Official Journal of the International Gynecological Cancer Society|August 11, 2018
Characterization of Primary Cilia in Normal Fallopian Tube Epithelium and Serous Tubal Intraepithelial CarcinomaZakia A Abdelhamed, Thomas A Ryan, Martin Fuller, 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.
Plos Genetics|February 10, 2026
A machine learning classifier to identify and prioritise genes associated with murine cardiac developmentMitra Kabir, Verity Hartill, Gist H Farr, et al.
Pageof 14

Showing results (41-50 of 132) with videos related to

Sort By:
Pageof 14
Biorxiv : the Preprint Server for Biology|September 16, 2024
Two functional forms of the Meckel-Gruber syndrome protein TMEM67 generated by proteolytic cleavage by ADAMTS9 mediate Wnt signaling and ciliogenesisManu Ahmed, Sydney Fischer, Karyn L Robert, et al.
Human Genetics|June 17, 2005
Locus heterogeneity in autosomal recessive congenital cataracts: linkage to 9q and germline HSF4 mutationsTim Forshew, Colin A Johnson, Shagufta Khaliq, et al.
Biology|June 26, 2025
AgileMultiIdeogram: Rapid Identification and Visualization of Autozygous Regions Using Illumina Short-Read Sequencing DataChristopher M Watson, Carolina Lascelles, Morag Raynor, et al.
Developmental Cell|December 3, 2014
IFT27 links the BBSome to IFT for maintenance of the ciliary signaling compartmentThibaut Eguether, Jovenal T San Agustin, Brian T Keady, et al.
Science (New York, N.Y.)|July 31, 2010
Planar cell polarity acts through septins to control collective cell movement and ciliogenesisSu Kyoung Kim, Asako Shindo, Tae Joo Park, et al.
American Journal of Human Genetics|December 31, 2005
A germline mutation in BLOC1S3/reduced pigmentation causes a novel variant of Hermansky-Pudlak syndrome (HPS8)Neil V Morgan, Shanaz Pasha, Colin A Johnson, 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.
International Journal of Gynecological Cancer : Official Journal of the International Gynecological Cancer Society|August 11, 2018
Characterization of Primary Cilia in Normal Fallopian Tube Epithelium and Serous Tubal Intraepithelial CarcinomaZakia A Abdelhamed, Thomas A Ryan, Martin Fuller, 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.
Plos Genetics|February 10, 2026
A machine learning classifier to identify and prioritise genes associated with murine cardiac developmentMitra Kabir, Verity Hartill, Gist H Farr, et al.
Pageof 14