Genevieve Baujat
Paris, France
Last Updated: 09/26/2026
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Found 162 publications
De novo MAP2K4 variants cause a novel neurodevelopmental syndrome with impaired JNK signaling in iPSC-derived neurons.
Journal: medRxiv : the preprint server for health sciences
Published: January 02, 2026
The clinical and molecular spectrum of AGO2-associated Lessel-Kreienkamp neurodevelopmental syndrome.
Journal: Genome medicine
Published: December 16, 2025
Marked regression of calcinosis with canakinumab in hyperphosphatemic familial tumoral calcinosis.
Journal: JBMR plus
Published: December 05, 2025
Longitudinal Observation of Children with Achondroplasia: Findings from a Global Natural History Study (ACHieve).
Journal: Hormone research in paediatrics
Published: October 14, 2025
Long-term noninvasive ventilation in children with fibrodysplasia ossificans progressiva.
Journal: Respiratory medicine
Published: October 09, 2025
Pediatric non-infectious inflammatory lytic lesions of the skull: The pitfalls of diagnosis.
Journal: Bone reports
Published: September 16, 2025
Rare disease care pathways profile in France: leveraging hospital big data to characterize natural history in osteogenesis imperfecta.
Journal: JBMR plus
Published: August 27, 2025
Medical guidelines for fibrodysplasia ossificans progressiva.
Journal: JBMR plus
Published: August 04, 2025
Achondroplasia and hypochondroplasia in France: a nationwide epidemiological analysis.
Journal: Orphanet journal of rare diseases
Published: June 23, 2025
Trametinib for multiple non-ossifying fibromas due to KRAS mosaic mutations: two case reports.
Journal: Communications medicine
Published: May 19, 2025
Refined genotype-phenotype correlations in neurofibromatosis type 1 patients with NF1 point variants.
Journal: Journal of medical genetics
Published: March 14, 2025
Last Updated: 09/26/2026