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Antoine Civit

Medical Genetics Assistant Professor and Hospital Practitioner

Université d'Angers

France

Research Interests

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Professors in France Professors in Cell Biology Cell Biology professors in France

Articles (4)

Year:

2025

Year:

2025

Year:

2024

Year:

2023

Collaborators (7)

Mizuki Honda

Assistant professor

Hiroshima University

JAPAN

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Tatsuhiko Tsunoda

Professor

University of Tokyo

JAPAN

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Masanori Fujimoto

Nagoya University Graduate School of Medicine

JAPAN

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Frederic Laumonnier

Team Leader, Research Director

INSERM

FRANCE

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Shinya Oki

特定准教授 / Program-Specific Associate Professor

Kyoto University

JAPAN

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Issei Shimada

Junior Associate Professor

Nagoya University

JAPAN

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Arnaud Bruneel

Associate professor and senior clinical biochemist (MCU-PH)

INSERM

FRANCE

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Antoine Civit

Research Interests

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Articles (4)

Variant Update on ASCC1: Characterization of the First Homozygous Missense Variant Involved in Prenatal-Onset Spinal Muscular Atrophy With Congenital Bone Fractures 2.

Identification of a Rare Branch Point Variant in the <i>SMS</i> Gene in a Large Family With a Severe Form of Snyder–Robinson Syndrome

Biallelic null variants in <i>PNPLA8</i> cause microcephaly by reducing the number of basal radial glia

Sweet ending: When genetics prevent a dramatic CDG diagnostic mistake

Collaborators (7)

Mizuki Honda

Tatsuhiko Tsunoda

Masanori Fujimoto

Frederic Laumonnier

Shinya Oki

Issei Shimada

Arnaud Bruneel

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