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International Journal of Molecular Sciences
|
June 27, 2024
Limited Added Diagnostic Value of Whole Genome Sequencing in Genetic Testing of Inherited Retinal Diseases in a Swiss Patient Cohort
Jordi Maggi, Samuel Koller, Silke Feil, et al.
Stem Cell Research
|
July 23, 2025
CRISPR/Cas9-mediated generation of two isogenic CEP290-mutated iPSC lines
Joana Figueiro-Silva, Melanie Eschment, Michelle Mennel, et al.
American Journal of Medical Genetics. Part A
|
April 4, 2017
Mortality in Joubert syndrome
Jennifer C Dempsey, Ian G Phelps, Ruxandra Bachmann-Gagescu, et al.
European Journal of Human Genetics : EJHG
|
December 22, 2022
Challenges for the implementation of next generation sequencing-based expanded carrier screening: Lessons learned from the ciliopathies
Ella Vintschger, Dennis Kraemer, Pascal Joset, et al.
Methods in Cell Biology
|
March 26, 2023
Studying the morphology, composition and function of the photoreceptor primary cilium in zebrafish
Markus Masek, Jingjing Zang, José M Mateos, et al.
International Journal of Molecular Sciences
|
September 14, 2024
Nanopore Deep Sequencing as a Tool to Characterize and Quantify Aberrant Splicing Caused by Variants in Inherited Retinal Dystrophy Genes
Jordi Maggi, Silke Feil, Jiradet Gloggnitzer, et al.
Human Molecular Genetics
|
August 6, 2011
The ciliopathy gene cc2d2a controls zebrafish photoreceptor outer segment development through a role in Rab8-dependent vesicle trafficking
Ruxandra Bachmann-Gagescu, Ian G Phelps, George Stearns, et al.
Biorxiv : the Preprint Server for Biology
|
August 6, 2025
BBSome-Mediated Clearance of Ubiquitinated IMPG2 Defines a Constitutive Ciliary Retrieval Pathway in Photoreceptors
Tirthasree Das, Gary A Bradshaw, Jeanette Hyer, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
August 4, 2017
Interpreting the clinical significance of combined variants in multiple recessive disease genes: systematic investigation of Joubert syndrome yields little support for oligogenicity
Ian G Phelps, Jennifer C Dempsey, Megan E Grout, et al.
Scientific Reports
|
August 19, 2018
Publisher Correction: The ciliopathy protein TALPID3/KIAA0586 acts upstream of Rab8 activation in zebrafish photoreceptor outer segment formation and maintenance
Irene Ojeda Naharros, Flavia B Cristian, Jingjing Zang, et al.
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of 6
Search research articles
Search
Showing results (11-20 of 51) with videos related to
Sort By:
Page
of 6
International Journal of Molecular Sciences
|
June 27, 2024
Limited Added Diagnostic Value of Whole Genome Sequencing in Genetic Testing of Inherited Retinal Diseases in a Swiss Patient Cohort
Jordi Maggi, Samuel Koller, Silke Feil, et al.
Stem Cell Research
|
July 23, 2025
CRISPR/Cas9-mediated generation of two isogenic CEP290-mutated iPSC lines
Joana Figueiro-Silva, Melanie Eschment, Michelle Mennel, et al.
American Journal of Medical Genetics. Part A
|
April 4, 2017
Mortality in Joubert syndrome
Jennifer C Dempsey, Ian G Phelps, Ruxandra Bachmann-Gagescu, et al.
European Journal of Human Genetics : EJHG
|
December 22, 2022
Challenges for the implementation of next generation sequencing-based expanded carrier screening: Lessons learned from the ciliopathies
Ella Vintschger, Dennis Kraemer, Pascal Joset, et al.
Methods in Cell Biology
|
March 26, 2023
Studying the morphology, composition and function of the photoreceptor primary cilium in zebrafish
Markus Masek, Jingjing Zang, José M Mateos, et al.
International Journal of Molecular Sciences
|
September 14, 2024
Nanopore Deep Sequencing as a Tool to Characterize and Quantify Aberrant Splicing Caused by Variants in Inherited Retinal Dystrophy Genes
Jordi Maggi, Silke Feil, Jiradet Gloggnitzer, et al.
Human Molecular Genetics
|
August 6, 2011
The ciliopathy gene cc2d2a controls zebrafish photoreceptor outer segment development through a role in Rab8-dependent vesicle trafficking
Ruxandra Bachmann-Gagescu, Ian G Phelps, George Stearns, et al.
Biorxiv : the Preprint Server for Biology
|
August 6, 2025
BBSome-Mediated Clearance of Ubiquitinated IMPG2 Defines a Constitutive Ciliary Retrieval Pathway in Photoreceptors
Tirthasree Das, Gary A Bradshaw, Jeanette Hyer, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
August 4, 2017
Interpreting the clinical significance of combined variants in multiple recessive disease genes: systematic investigation of Joubert syndrome yields little support for oligogenicity
Ian G Phelps, Jennifer C Dempsey, Megan E Grout, et al.
Scientific Reports
|
August 19, 2018
Publisher Correction: The ciliopathy protein TALPID3/KIAA0586 acts upstream of Rab8 activation in zebrafish photoreceptor outer segment formation and maintenance
Irene Ojeda Naharros, Flavia B Cristian, Jingjing Zang, et al.
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of 6