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Your search keyword '"Riberi, Evelise"' showing total 15 results

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15 results on '"Riberi, Evelise"'

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1. Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism

2. Mice harbouring a SCA28 patient mutation in AFG3L2 develop late-onset ataxia associated with enhanced mitochondrial proteotoxicity

3. Exome sequencing in children of women with skewed X-inactivation identifies atypical cases and complex phenotypes

6. Jansen‐de Vries syndrome: Expansion of thePPM1Dclinical and phenotypic spectrum in 34 families

9. Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism

10. Front Cover, Volume 40, Issue 6

11. NBAS pathogenic variants: Defining the associated clinical and facial phenotype and genotype–phenotype correlations

12. Mice harboring a SCA28 patient mutation in AFG3L2 develop late-onset ataxia associated with enhanced mitochondrial proteotoxicity.

13. A novel 3q29 deletion associated with autism, intellectual disability, psychiatric disorders, and obesity

14. Mice harbouring a SCA28 patient mutation in AFG3L2 develop late-onset ataxia associated with enhanced mitochondrial proteotoxicity

15. Jansen-de Vries syndrome: Expansion of the PPM1D clinical and phenotypic spectrum in 34 families.

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