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Institute for Molecular Life Sciences,
Institute for Medical Genetics
Ruxandra Bachmann-Gagescu has not added Biography.
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Mutations in CSPP1 cause primary cilia abnormalities and Joubert syndrome with or without Jeune asphyxiating thoracic dystrophy.
American journal of human genetics Jan, 2014 | Pubmed ID: 24360808
KIAA0586 is Mutated in Joubert Syndrome.
Human mutation Sep, 2015 | Pubmed ID: 26096313
NINL and DZANK1 Co-function in Vesicle Transport and Are Essential for Photoreceptor Development in Zebrafish.
PLoS genetics Oct, 2015 | Pubmed ID: 26485514
The Ciliopathy Protein CC2D2A Associates with NINL and Functions in RAB8-MICAL3-Regulated Vesicle Trafficking.
PLoS genetics Oct, 2015 | Pubmed ID: 26485645
Mortality in Joubert syndrome.
American journal of medical genetics. Part A May, 2017 | Pubmed ID: 28371402
Mutations in ARMC9, which Encodes a Basal Body Protein, Cause Joubert Syndrome in Humans and Ciliopathy Phenotypes in Zebrafish.
American journal of human genetics Jul, 2017 | Pubmed ID: 28625504
Interpreting the clinical significance of combined variants in multiple recessive disease genes: systematic investigation of Joubert syndrome yields little support for oligogenicity.
Genetics in medicine : official journal of the American College of Medical Genetics Aug, 2017 | Pubmed ID: 28771248
University of Zurich
José M. Mateos1,
Gery Barmettler1,
Jana Doehner1,
Irene Ojeda Naharros2,
Bruno Guhl1,
Stephan C.F. Neuhauss2,
Andres Kaech1,
Ruxandra Bachmann-Gagescu2,3,
Urs Ziegler1
1Center for Microscopy and Image Analysis, University of Zurich,
2Institute for Molecular Life Sciences, University of Zurich,
3Institute for Medical Genetics, University of Zurich
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