Maia Proisy
Brest, France
Last Updated: 09/26/2026
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Found 38 publications
Extending the clinical spectrum of X-linked Tonne-Kalscheuer syndrome (TOKAS): new insights from the fetal perspective.
Journal: Journal of medical genetics
Published: January 05, 2024
PHGDH-related microcephalic dwarfism in two fetuses: Expanding the phenotypical spectrum of L-serine biosynthesis defect.
Journal: European journal of medical genetics
Published: July 02, 2023
Impaired catabolism of free oligosaccharides due to MAN2C1 variants causes a neurodevelopmental disorder.
Journal: American journal of human genetics
Published: July 19, 2021
PHACES Syndrome and Associated Anomalies: Risk Associated With Small and Large Facial Hemangiomas.
Journal: AJR. American journal of roentgenology
Published: May 26, 2021
Multiparametric Analysis of Cerebral Development in Preterm Infants Using Magnetic Resonance Imaging.
Journal: Frontiers in neuroscience
Published: January 24, 2021
Whole-body MR imaging in suspected physical child abuse: comparison with skeletal survey and bone scintigraphy findings from the PEDIMA prospective multicentre study.
Journal: European radiology
Published: December 17, 2020
Pneumosinus dilatans of the sphenoid and visual loss: when should the optic nerve be decompressed?
Journal: Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
Published: July 06, 2020
Automated brain MRI metrics in the EPIRMEX cohort of preterm newborns: Correlation with the neurodevelopmental outcome at 2 years.
Journal: Diagnostic and interventional imaging
Published: July 02, 2020
Performance of diagnostic ultrasound to identify causes of hydramnios.
Journal: Prenatal diagnosis
Published: June 18, 2020
Dysplastic gangliocytoma of the cerebellum (Lhermitte-Duclos disease) presenting as a prenatally heterotopic hamartoma.
Journal: Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
Published: May 08, 2020
ATP7A mutation with occipital horns and distal motor neuropathy: A continuum.
Journal: European journal of medical genetics
Published: March 10, 2020
Ruptured intracranial arachnoid cysts in the subdural space: evaluation of subduro-peritoneal shunts in a pediatric population.
Journal: Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
Published: October 05, 2019
Last Updated: 09/26/2026