11 results on '"Boddaert, Nathalie"'
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2. IFT81, encoding an IFT-B core protein, as a very rare cause of a ciliopathy phenotype
3. Mutations in the tricarboxylic acid cycle enzyme, aconitase 2, cause either isolated or syndromic optic neuropathy with encephalopathy and cerebellar atrophy
4. Heterogeneity of PNPT1 neuroimaging: mitochondriopathy, interferonopathy or both?
5. Novel KIF7 mutations extend the phenotypic spectrum of acrocallosal syndrome
6. Heterogeneity of PNPT1 neuroimaging: mitochondriopathy, interferonopathy or both?
7. De novo SCAMP5 mutation causes a neurodevelopmental disorder with autistic features and seizures
8. De novo SCAMP5 mutation causes a neurodevelopmental disorder with autistic features and seizures.
9. High predictive value of brain MRI imaging in primary mitochondrial respiratory chain deficiency
10. NovelKIF7mutations extend the phenotypic spectrum of acrocallosal syndrome
11. Mutations in the tricarboxylic acid cycle enzyme, aconitase 2, cause either isolated or syndromic optic neuropathy with encephalopathy and cerebellar atrophy.
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