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The Journal of Pathology
|
May 17, 2019
A new mouse model for the neurodevelopmental ciliopathy Joubert syndrome
Ruxandra Bachmann-Gagescu
Medecine Sciences : M/S
|
November 13, 2014
[Genetic complexity of ciliopathies and novel genes identification]
Ruxandra Bachmann-Gagescu
Current Topics in Developmental Biology
|
December 3, 2023
Control of protein and lipid composition of photoreceptor outer segments-Implications for retinal disease
Markus Masek, Ruxandra Bachmann-Gagescu
Current Opinion in Genetics & Development
|
July 2, 2019
The photoreceptor cilium and its diseases
Ruxandra Bachmann-Gagescu, Stephan Cf Neuhauss
Journal of Cell Science
|
October 27, 2025
Tackling ciliary specialization to understand phenotypic variability in human primary ciliopathies
Ruxandra Bachmann-Gagescu, John A Sayer
Frontiers in Genetics
|
July 18, 2022
Insights Gained From Zebrafish Models for the Ciliopathy Joubert Syndrome
Tamara D S Rusterholz, Claudia Hofmann, Ruxandra Bachmann-Gagescu
Clinical Dysmorphology
|
April 15, 2011
Myhre syndrome with ataxia and cerebellar atrophy
Ruxandra Bachmann-Gagescu, Fukie Marie Hisama, Amy Lawson Yuen
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience
|
June 24, 2026
Evolving Roles of Primary Cilia in CNS Development and Neural Circuit Function: From Human Disease to Molecular Underpinnings
Alexandra R Noble, Dan Doherty, Esther Stoeckli, et al.
Developmental Biology
|
December 18, 2024
The primary cilium gene CPLANE1 is required for peripheral nervous system development
Elkhan Yusifov, Martina Schaettin, Alexandre Dumoulin, et al.
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.
Page
of 6
Search research articles
Search
Showing results (1-10 of 51) with videos related to
Sort By:
Page
of 6
The Journal of Pathology
|
May 17, 2019
A new mouse model for the neurodevelopmental ciliopathy Joubert syndrome
Ruxandra Bachmann-Gagescu
Medecine Sciences : M/S
|
November 13, 2014
[Genetic complexity of ciliopathies and novel genes identification]
Ruxandra Bachmann-Gagescu
Current Topics in Developmental Biology
|
December 3, 2023
Control of protein and lipid composition of photoreceptor outer segments-Implications for retinal disease
Markus Masek, Ruxandra Bachmann-Gagescu
Current Opinion in Genetics & Development
|
July 2, 2019
The photoreceptor cilium and its diseases
Ruxandra Bachmann-Gagescu, Stephan Cf Neuhauss
Journal of Cell Science
|
October 27, 2025
Tackling ciliary specialization to understand phenotypic variability in human primary ciliopathies
Ruxandra Bachmann-Gagescu, John A Sayer
Frontiers in Genetics
|
July 18, 2022
Insights Gained From Zebrafish Models for the Ciliopathy Joubert Syndrome
Tamara D S Rusterholz, Claudia Hofmann, Ruxandra Bachmann-Gagescu
Clinical Dysmorphology
|
April 15, 2011
Myhre syndrome with ataxia and cerebellar atrophy
Ruxandra Bachmann-Gagescu, Fukie Marie Hisama, Amy Lawson Yuen
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience
|
June 24, 2026
Evolving Roles of Primary Cilia in CNS Development and Neural Circuit Function: From Human Disease to Molecular Underpinnings
Alexandra R Noble, Dan Doherty, Esther Stoeckli, et al.
Developmental Biology
|
December 18, 2024
The primary cilium gene CPLANE1 is required for peripheral nervous system development
Elkhan Yusifov, Martina Schaettin, Alexandre Dumoulin, et al.
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.
Page
of 6