Jean-louis L. Mandel
Illkirch-graffenstaden, France
Last Updated: 09/26/2026
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Found 62 publications
Correction: DYRK1A roles in human neural progenitors.
Journal: Frontiers in neuroscience
Published: January 12, 2026
Vertigo and dizziness in genetic neurodevelopmental disorders: an international cross-sectional study.
Journal: Journal of neurology
Published: June 11, 2025
DYRK1A roles in human neural progenitors.
Journal: Frontiers in neuroscience
Published: November 23, 2024
Contribution of families using the GenIDA database to the description of MED13L syndrome and literature review.
Journal: Journal of neurodevelopmental disorders
Published: October 09, 2024
Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption.
Journal: Nature genetics
Published: October 02, 2024
Behavioral, neurodevelopmental profile, and epilepsy trajectory in two series of SLC6A1-NDD: A retrospective study with comprehensive assessment, and a participatory database study.
Journal: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
Published: March 24, 2024
Lessons from two series by physicians and caregivers' self-reported data in DDX3X-related disorders.
Lessons from two series by physicians and caregivers' self-reported data in DDX3X-related disorders.
Journal: Molecular genetics & genomic medicine
Published: August 03, 2023
Speech and language in DDX3X-neurodevelopmental disorder: A call for early augmentative and alternative communication intervention.
Journal: American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics
Published: July 21, 2023
Recurrent familial case of early childhood sudden death: Complex post mortem genetic investigations.
Recurrent familial case of early childhood sudden death: Complex post mortem genetic investigations.
Journal: Forensic science international. Genetics
Published: July 20, 2023
Ocular manifestations in Koolen-de Vries syndrome: an international study.
Journal: Canadian journal of ophthalmology. Journal canadien d'ophtalmologie
Published: May 08, 2023
GenIDA, a participatory patient registry for genetic forms of intellectual disability provides detailed caregiver-reported information on 237 individuals with Koolen-de Vries syndrome.
Journal: Genetics in medicine open
Published: April 04, 2023
Clinical and radiological assessment of scoliosis in Koolen-de Vries syndrome.
Journal: American journal of medical genetics. Part A
Published: March 24, 2023
Last Updated: 09/26/2026