Simon Samaan
Frepillon, 95740, France
Last Updated: 09/26/2026
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Found 9 publications
Maternal serum markers profiles for Down syndrome : review of comments and actionable recommendations.
Journal: Gynecologie, obstetrique, fertilite & senologie
Published: March 31, 2026
Insights from the LysoNeo prospective cohort study to improve newborn screening of lysosomal diseases.
Journal: Communications medicine
Published: September 16, 2025
Novel POLR1C mutation in RNA polymerase III-related leukodystrophy with severe myoclonus and dystonia.
Journal: Molecular genetics & genomic medicine
Published: April 08, 2019
New Insights in Vanishing White Matter Disease: Isolated Bilateral Optic Neuropathy in Adult-Onset Disease: Response.
Journal: Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society
Published: August 30, 2018
Genetic findings in adolescent and adult-onset leukodystrophies with hypomyelinating features.
Journal: Journal of neurology, neurosurgery, and psychiatry
Published: July 11, 2018
Mutation in POLR3K causes hypomyelinating leukodystrophy and abnormal ribosomal RNA regulation.
Journal: Neurology. Genetics
Published: May 22, 2018
Confirmation of Atypical Presentation With Nonprogressive Leukodystrophy in eIF2B-Related Disorders.
Confirmation of Atypical Presentation With Nonprogressive Leukodystrophy in eIF2B-Related Disorders.
Journal: Pediatric neurology
Published: April 24, 2018
Alanyl-tRNA Synthetase 2-Related Dementia with Selective Bilateral Frontal Cystic Leukoencephalopathy.
Journal: Journal of clinical neurology (Seoul, Korea)
Published: January 23, 2018
Mutation in the AGK gene in two siblings with unusual Sengers syndrome.
Journal: Metabolic brain disease
Published: July 08, 2017
Showing 1-9 of 9
Last Updated: 09/26/2026