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Jean-Louis Mandel

6PUBLICATIONS

110CO-AUTHORS

Neurology and neuromuscular diseasesLinguistic structures (incl. phonology, morphology and syntax)NeonatologyOtorhinolaryngologyMicroelectromechanical systems (MEMS)

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Publications (6)

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|Jul 08, 2025

Vertigo and dizziness in genetic neurodevelopmental disorders: an international cross-sectional study.

Christophe Lopez, Pauline Burger, Jean-Louis Mandel

|May 16, 2025

Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption.

Caroline Nava, Benjamin Cogne, Amandine Santini

|Feb 29, 2024

Speech and language in DDX3X-neurodevelopmental disorder: A call for early augmentative and alternative communication intervention.

Elana J Forbes, Lottie D Morison, Fatma Lelik

|Nov 29, 2023

Molecular consequences of PQBP1 deficiency, involved in the X-linked Renpenning syndrome.

Jérémie Courraud, Camille Engel, Angélique Quartier

|Jun 23, 2023

Clinical and radiological assessment of scoliosis in Koolen-de Vries syndrome.

Arianne Bouman, Romy N Bouwmeester, Leo A van Vlimmeren

|Apr 04, 2022

AAV-delivered diacylglycerol kinase DGKk achieves long-term rescue of fragile X syndrome mouse model.

Karima Habbas, Oktay Cakil, Boglárka Zámbó

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Frequent Collaborators

3 joint publications

Pauline Burger

2 joint publications

Amélie Piton

2 joint publications

Gaetan Lesca

1 joint publications

Oktay Cakil

1 joint publications

Boglárka Zámbó

1 joint publications

Hervé Moine

1 joint publications

Arianne Bouman

1 joint publications

Leo A van Vlimmeren

1 joint publications

Romain Coutelle

1 joint publications

Marinus de Kleuver

Frequent Collaborators

3 joint publications

Pauline Burger

2 joint publications

Amélie Piton

2 joint publications

Gaetan Lesca

1 joint publications

Oktay Cakil

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