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MCIDAS mutations result in a mucociliary clearance disorder with reduced generation of multiple motile cilia.
Published in:
Nature Communications, 2014, v. 5, n. 7, p. 4418, doi. 10.1038/ncomms5418
By:
- Boon, Mieke;
- Wallmeier, Julia;
- Ma, Lina;
- Loges, Niki Tomas;
- Jaspers, Martine;
- Olbrich, Heike;
- Dougherty, Gerard W.;
- Raidt, Johanna;
- Werner, Claudius;
- Amirav, Israel;
- Hevroni, Avigdor;
- Abitbul, Revital;
- Avital, Avraham;
- Soferman, Ruth;
- Wessels, Marja;
- O'Callaghan, Christopher;
- Chung, Eddie M. K.;
- Rutman, Andrew;
- Hirst, Robert A.;
- Moya, Eduardo
Publication type:
Article
Systematic Analysis of CCNO Variants in a Defined Population: Implications for Clinical Phenotype and Differential Diagnosis.
Published in:
Human Mutation, 2016, v. 37, n. 4, p. 396, doi. 10.1002/humu.22957
By:
- Amirav, Israel;
- Wallmeier, Julia;
- Loges, Niki T.;
- Menchen, Tabea;
- Pennekamp, Petra;
- Mussaffi, Huda;
- Abitbul, Revital;
- Avital, Avraham;
- Bentur, Lea;
- Dougherty, Gerard W.;
- Nael, Elias;
- Lavie, Moran;
- Olbrich, Heike;
- Werner, Claudius;
- Kintner, Chris;
- Omran, Heymut
Publication type:
Article