Ruxandra Bachmann-Gagescu Institute for Molecular Life Sciences University of Zurich Biography Publications Institution JoVE Articles Ruxandra Bachmann-Gagescu has not added a biography. If you are Ruxandra Bachmann-Gagescu and would like to personalize this page please email our Author Liaison for assistance. Publications 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 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 Mortality in Joubert Syndrome American Journal of Medical Genetics. Part A. May, 2017 | Pubmed ID: 28371402 The Ciliopathy Protein CC2D2A Associates with NINL and Functions in RAB8-MICAL3-Regulated Vesicle Trafficking PLoS Genetics. Oct, 2015 | Pubmed ID: 26485645 NINL and DZANK1 Co-function in Vesicle Transport and Are Essential for Photoreceptor Development in Zebrafish PLoS Genetics. Oct, 2015 | Pubmed ID: 26485514 KIAA0586 is Mutated in Joubert Syndrome Human Mutation. Sep, 2015 | Pubmed ID: 26096313 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 Microscopia elettronica e correlativo super-risoluzione per risolvere la localizzazione della proteina nella Retina di Zebrafish 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 JoVE 56113 Developmental Biology
Microscopia elettronica e correlativo super-risoluzione per risolvere la localizzazione della proteina nella Retina di Zebrafish 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 JoVE 56113 Developmental Biology
