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Stef J F Letteboer

Showing results (21-30 of 32) with videos related to

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Proceedings of the National Academy of Sciences of the United States of America|April 22, 2020
PCARE and WASF3 regulate ciliary F-actin assembly that is required for the initiation of photoreceptor outer segment disk formationJulio C Corral-Serrano, Ideke J C Lamers, Jeroen van Reeuwijk, et al.
American Journal of Human Genetics|December 20, 2011
Mutations in C8orf37, encoding a ciliary protein, are associated with autosomal-recessive retinal dystrophies with early macular involvementAlejandro Estrada-Cuzcano, Kornelia Neveling, Susanne Kohl, 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.
Plos Genetics|August 28, 2018
Homozygous loss-of-function mutations in MNS1 cause laterality defects and likely male infertilityAsaf Ta-Shma, Rim Hjeij, Zeev Perles, et al.
American Journal of Human Genetics|September 6, 2014
CCDC151 mutations cause primary ciliary dyskinesia by disruption of the outer dynein arm docking complex formationRim Hjeij, Alexandros Onoufriadis, Christopher M Watson, et al.
American Journal of Human Genetics|October 28, 2008
CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290Nicholas T Gorden, Heleen H Arts, Melissa A Parisi, et al.
Nature Genetics|July 23, 2013
DYX1C1 is required for axonemal dynein assembly and ciliary motilityAarti Tarkar, Niki T Loges, Christopher E Slagle, et al.
Plos One|May 17, 2019
CiliaCarta: An integrated and validated compendium of ciliary genesTeunis J P van Dam, Julie Kennedy, Robin van der Lee, et al.
Nature Genetics|September 14, 2010
Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathyEdgar A Otto, Toby W Hurd, Rannar Airik, et al.
Nature Communications|May 14, 2016
An organelle-specific protein landscape identifies novel diseases and molecular mechanismsKarsten Boldt, Jeroen van Reeuwijk, Qianhao Lu, et al.
Pageof 4

Showing results (21-30 of 32) with videos related to

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Pageof 4
Proceedings of the National Academy of Sciences of the United States of America|April 22, 2020
PCARE and WASF3 regulate ciliary F-actin assembly that is required for the initiation of photoreceptor outer segment disk formationJulio C Corral-Serrano, Ideke J C Lamers, Jeroen van Reeuwijk, et al.
American Journal of Human Genetics|December 20, 2011
Mutations in C8orf37, encoding a ciliary protein, are associated with autosomal-recessive retinal dystrophies with early macular involvementAlejandro Estrada-Cuzcano, Kornelia Neveling, Susanne Kohl, 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.
Plos Genetics|August 28, 2018
Homozygous loss-of-function mutations in MNS1 cause laterality defects and likely male infertilityAsaf Ta-Shma, Rim Hjeij, Zeev Perles, et al.
American Journal of Human Genetics|September 6, 2014
CCDC151 mutations cause primary ciliary dyskinesia by disruption of the outer dynein arm docking complex formationRim Hjeij, Alexandros Onoufriadis, Christopher M Watson, et al.
American Journal of Human Genetics|October 28, 2008
CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290Nicholas T Gorden, Heleen H Arts, Melissa A Parisi, et al.
Nature Genetics|July 23, 2013
DYX1C1 is required for axonemal dynein assembly and ciliary motilityAarti Tarkar, Niki T Loges, Christopher E Slagle, et al.
Plos One|May 17, 2019
CiliaCarta: An integrated and validated compendium of ciliary genesTeunis J P van Dam, Julie Kennedy, Robin van der Lee, et al.
Nature Genetics|September 14, 2010
Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathyEdgar A Otto, Toby W Hurd, Rannar Airik, et al.
Nature Communications|May 14, 2016
An organelle-specific protein landscape identifies novel diseases and molecular mechanismsKarsten Boldt, Jeroen van Reeuwijk, Qianhao Lu, et al.
Pageof 4