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Combined NGS Approaches Identify Mutations in the Intraflagellar Transport Gene IFT140 in Skeletal Ciliopathies with Early Progressive Kidney Disease von Schmidts, Miriam, Frank, Valeska, Eisenberger, Tobias, al Turki, Saeed, Bizet, Albane A., Antony, Dinu, Rix, Suzanne, Decker, Christian, Bachmann, Nadine, Bald, Martin, Vinke, Tobias, Toenshoff, Burkhard, Di Donato, Natalia, Neuhann, Theresa, Hartley, Jane L., Maher, Eamonn R., Bogdanović, Radovan, Peco-Antić, Amira, Mache, Christoph, Hurles, Matthew E., Joksić, Ivana, Guć-Šćekić, Marija, Dobricic, Jelena, Brankovic-Magic, Mirjana, Bolz, Hanno J., Pazour, Gregory J., Beales, Philip L., Scambler, Peter J., Saunier, Sophie, Mitchison, Hannah M., Bergmann, Carsten
Veröffentlicht in Human mutation
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Seite wird neu geladen, wenn Filter aktiviert oder ausgeschlossen wird.- Animals 1 Treffer 1
- Biological Transport - Genetics 1 Treffer 1
- Cerebellar Ataxia - Genetics 1 Treffer 1
- Child 1 Treffer 1
- Cilia 1 Treffer 1
- Cilia - Metabolism 1 Treffer 1
- Cohort Studies 1 Treffer 1
- Disease Progression 1 Treffer 1
- Exome 1 Treffer 1
- Genes 1 Treffer 1
- Genetics & Heredity 1 Treffer 1
- Humans 1 Treffer 1
- Ift140 1 Treffer 1
- Jeune Asphyxiating Thoracic Dystrophy 1 Treffer 1
- Kidney Diseases 1 Treffer 1
- Kidney Diseases - Genetics 1 Treffer 1
- Kidney Diseases - Pathology 1 Treffer 1
- Life Sciences & Biomedicine 1 Treffer 1
- Mainzer-Saldino Syndrome 1 Treffer 1
- Mainzer‐Saldino Syndrome 1 Treffer 1
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