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Publications by Brunella Mancuso

ExpandingCEP290mutational Spectrum in Ciliopathies

American Journal of Medical Genetics, Part A

English

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Ciliopathies: Genetics in Pediatric Medicine

Journal of Pediatric Genetics

English

Zebrafish Assays of Ciliopathies

Methods in Cell Biology

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Liver and Kidney Disease in Ciliopathies

American Journal of Medical Genetics, Part C: Seminars in Medical Genetics

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The Role of RPGR and Its Interacting Proteins in Ciliopathies

Journal of Ophthalmology

English

When Cilia Go Bad: Cilia Defects and Ciliopathies

Nature Reviews Molecular Cell Biology

Molecular Biology

English

Remodeling Cildb, a Popular Database for Cilia and Links for Ciliopathies

English

The Cilia-Regulated Proteasome and Its Role in the Development of Ciliopathies and Cancer

English

661W Photoreceptor Cell Line as a Cell Model for Studying Retinal Ciliopathies

Frontiers in Genetics

Molecular Medicine

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Opportunities and Challenges for Molecular Understanding of Ciliopathies–The 100,000 Genomes Project

Frontiers in Genetics

Molecular Medicine

English