Diane Doummar

4PUBLICATIONS
57CO-AUTHORS
NeurogeneticsDevelopmental genetics (incl. sex determination)Infant and child healthIsotope geochemistry
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Publications (4)

|Mar 12, 2026
Missense Variants in the A Isoform of FGF13 as a Novel Cause of Paroxysmal Dyskinesia.

Cyril Mignot, Matthildi Athina Papathanasiou Terzi, Claudia Ravelli

|Jun 20, 2024
Biallelic ZBTB11 Variants: A Neurodevelopmental Condition with Progressive Complex Movement Disorders.

Juan Darío Ortigoza-Escobar, Mina Zamani, Nathalie Dorison

|Dec 25, 2023
Clinical and Electrophysiological Characterization of Essential Tremor in 18 Children and Adolescents.

Julie Piarroux, Evgenia Dimopoulou, Guillaume Taieb

|Jul 10, 2021
Enlargement of the Optic Chiasm: A Novel Imaging Finding in Glutaric Aciduria Type 1.

A A Ntorkou, J Daire, F Renaldo

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