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Roberta Zeuli

2PUBLICATIONS

154CO-AUTHORS

Neurology and neuromuscular diseasesGene mapping

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Publications (2)

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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

|Dec 13, 2024

Variants in the AGBL5 gene are responsible for autosomal recessive Retinitis pigmentosa with hearing loss.

Marianthi Karali, Gema García-García, Karolina Kaminska

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Karolina Kaminska

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Maria Rosaria Barillari

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Evangelia S Panagiotou

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Pilar Barberán-Martínez

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Miguel Armengot

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Karolina Kaminska

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