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Cécile Rouzier

7PUBLICATIONS
109CO-AUTHORS
Medical infection agents (incl. prions)Cardiology (incl. cardiovascular diseases)Cardiovascular medicine and haematology not elsewhere classifiedEpigenetics (incl. genome methylation and epigenomics)Medical molecular engineering of nucleic acids and proteins
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Journal

Publications (7)

Sort by Publication Date:
|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
<i>RBM20</i> 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

Pageof 2

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

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

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