Pauline Burger
Illkirch-graffenstaden, 67400, France
Last Updated: 09/26/2026
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Found 22 publications
Vertigo and dizziness in genetic neurodevelopmental disorders: an international cross-sectional study.
Journal: Journal of neurology
Published: June 11, 2025
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
Phytochemical Investigation of an Ostrya carpinifolia L. Extract: An Effective Anti-Pollution Cosmetic Active Ingredient.
Journal: Chemistry & biodiversity
Published: August 28, 2024
Exploring Kleefstra syndrome cohort phenotype characteristics: Prevalence insights from caregiver-reported outcomes.
Journal: European journal of medical genetics
Published: May 21, 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
A burning question from the first international BPAN symposium: is restoration of autophagy a promising therapeutic strategy for BPAN?
Journal: Autophagy
Published: August 11, 2023
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
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
GenIDA: an international participatory database to gain knowledge on health issues related to genetic forms of neurodevelopmental disorders.
Journal: Journal of neural transmission (Vienna, Austria : 1996)
Published: July 22, 2022
Last Updated: 09/26/2026