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Sabrina Signorini

2PUBLICATIONS

155CO-AUTHORS

Neurology and neuromuscular diseasesCraniofacial biology

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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

|May 19, 2021

Challenges and resources in adult life with Joubert syndrome: issues from an international classification of functioning (ICF) perspective.

Romina Romaniello, Chiara Gagliardi, Patrizia Desalvo

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Frequent Collaborators

2 joint publications

Enza Maria Valente

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

Frequent Collaborators

2 joint publications

Enza Maria Valente

1 joint publications

Mathieu Quinodoz

1 joint publications

Kim Rodenburg

1 joint publications

Zuzana Cvackova

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