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Colin A Johnson

Showing results (91-100 of 132) with videos related to

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Nature Cell Biology|November 24, 2015
TMEM107 recruits ciliopathy proteins to subdomains of the ciliary transition zone and causes Joubert syndromeNils J Lambacher, Ange-Line Bruel, Teunis J P van Dam, 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|February 10, 2009
Mutations in radial spoke head protein genes RSPH9 and RSPH4A cause primary ciliary dyskinesia with central-microtubular-pair abnormalitiesVictoria H Castleman, Leila Romio, Rahul Chodhari, et al.
Medrxiv : the Preprint Server for Health Sciences|February 6, 2026
Systematic analysis of homozygous autosomal copy number losses in exomes improves diagnostic yield and uncovers ultra-rare recessive disordersAnkur Chaurasia, Anju Shukla, Shruti Pande, et al.
Biorxiv : the Preprint Server for Biology|June 12, 2025
The RNA splicing factor PRPF8 is required for left-right organiser cilia function and determination of cardiac left-right asymmetry via regulation of Arl13b splicingFangfei Jiang, Michael Boylan, Dale W Maxwell, 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.
European Journal of Human Genetics : EJHG|June 26, 2026
Systematic analysis of homozygous autosomal copy number losses in exomes improves diagnostic yield and uncovers ultra-rare recessive disordersAnkur Chaurasia, Anju Shukla, Shruti Pande, et al.
Human Molecular Genetics|December 12, 2017
DNAAF1 links heart laterality with the AAA+ ATPase RUVBL1 and ciliary intraflagellar transportVerity L Hartill, Glenn van de Hoek, Mitali P Patel, et al.
Nature Genetics|March 31, 2004
Mutations in VPS33B, encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis-renal dysfunction-cholestasis (ARC) syndromePaul Gissen, Colin A Johnson, Neil V Morgan, 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.
Pageof 14

Showing results (91-100 of 132) with videos related to

Sort By:
Pageof 14
Nature Cell Biology|November 24, 2015
TMEM107 recruits ciliopathy proteins to subdomains of the ciliary transition zone and causes Joubert syndromeNils J Lambacher, Ange-Line Bruel, Teunis J P van Dam, 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|February 10, 2009
Mutations in radial spoke head protein genes RSPH9 and RSPH4A cause primary ciliary dyskinesia with central-microtubular-pair abnormalitiesVictoria H Castleman, Leila Romio, Rahul Chodhari, et al.
Medrxiv : the Preprint Server for Health Sciences|February 6, 2026
Systematic analysis of homozygous autosomal copy number losses in exomes improves diagnostic yield and uncovers ultra-rare recessive disordersAnkur Chaurasia, Anju Shukla, Shruti Pande, et al.
Biorxiv : the Preprint Server for Biology|June 12, 2025
The RNA splicing factor PRPF8 is required for left-right organiser cilia function and determination of cardiac left-right asymmetry via regulation of Arl13b splicingFangfei Jiang, Michael Boylan, Dale W Maxwell, 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.
European Journal of Human Genetics : EJHG|June 26, 2026
Systematic analysis of homozygous autosomal copy number losses in exomes improves diagnostic yield and uncovers ultra-rare recessive disordersAnkur Chaurasia, Anju Shukla, Shruti Pande, et al.
Human Molecular Genetics|December 12, 2017
DNAAF1 links heart laterality with the AAA+ ATPase RUVBL1 and ciliary intraflagellar transportVerity L Hartill, Glenn van de Hoek, Mitali P Patel, et al.
Nature Genetics|March 31, 2004
Mutations in VPS33B, encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis-renal dysfunction-cholestasis (ARC) syndromePaul Gissen, Colin A Johnson, Neil V Morgan, 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.
Pageof 14