Roser Gonzàlez-Duarte
3PUBLICATIONS
150CO-AUTHORS
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Publications (3)
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|Jan 20, 2025
De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa.Mathieu Quinodoz, Kim Rodenburg, Zuzana Cvackova
|Jan 26, 2018
Novel mutation in the choroideremia gene and multi-Mendelian phenotypes in Spanish families.Marta de Castro-Miró, Raul Tonda, Gemma Marfany
|Dec 23, 2016
Novel Candidate Genes and a Wide Spectrum of Structural and Point Mutations Responsible for Inherited Retinal Dystrophies Revealed by Exome Sequencing.Marta de Castro-Miró, Raul Tonda, Paula Escudero-Ferruz
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Frequent Collaborators
1 joint publications
Mathieu Quinodoz
1 joint publications
Kim Rodenburg
1 joint publications
Zuzana Cvackova
1 joint publications
Karolina Kaminska
1 joint publications
Suzanne E de Bruijn
1 joint publications
Ana Belén Iglesias-Romero
1 joint publications
Erica G M Boonen
1 joint publications
Mukhtar Ullah
1 joint publications
Nick Zomer
1 joint publications
Marc Folcher
