Cécile Rouzier
7PUBLICATIONS
109CO-AUTHORS
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Publications (7)
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|Jan 15, 2026
Clinical and Genotypic Spectrum of Twinkle-Related Disorders: Insights From a Multinational Cohort Study.Piervito Lopriore, Zeynep Ünlütürk, Thomas Klopstock
|Jan 17, 2025
RBM20 Gene in Patients With Cardiomyopathy: Phenotypic Expression for Loss-of-Function Versus Hotspot Variants.Alexis Hermida, Flavie Ader, Gilles Millat
|May 22, 2024
Comparison of the ABC and ACMG systems for variant classification.Gunnar Houge, Eirik Bratland, Ingvild Aukrust
|May 17, 2024
Deoxyguanosine kinase deficiency: natural history and liver transplant outcome.Eleonora Manzoni, Sara Carli, Pauline Gaignard
|May 04, 2024
Primary mitochondrial disorders and mimics: Insights from a large French cohort.Cécile Rouzier, Emmanuelle Pion, Annabelle Chaussenot
|Dec 23, 2023
A Case Report of SYNE1 Deficiency-Mimicking Mitochondrial Disease and the Value of Pangenomic Investigations.Mounir Serag, Morgane Plutino, Perrine Charles
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Frequent Collaborators
2 joint publications
Guido Primiano
1 joint publications
Jean-Michel Rozet
1 joint publications
Samira Ait-El-Mkadem Saadi
1 joint publications
Mireille Cossee
1 joint publications
Shahram Attarian
1 joint publications
Sara Carli
1 joint publications
Kei Murayama
1 joint publications
Diego Martinelli
1 joint publications
Caterina Garone
1 joint publications
Gunnar Houge
