13 results on '"des Portes, Vincent"'
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2. Complex mosaic CDKL5 deletion with two distinct mutant alleles in a 4-year-old girl
3. Neural correlates of non-verbal social interactions: A dual-EEG study
4. Clinical and neurocognitive characterization of a family with a novel MED12 gene frameshift mutation
5. Relevance of Different Cellular Models in Determining the Effects of Mutations on SLC16A2/MCT8 Thyroid Hormone Transporter Function and Genotype–Phenotype Correlation
6. Prenatal diagnosis of ‘isolated’ Dandy–Walker malformation: imaging findings and prenatal counselling
7. GPR56-related bilateral frontoparietal polymicrogyria: further evidence for an overlap with the cobblestone complex
8. Ring 14 chromosome presenting as early-onset isolated partial epilepsy
9. LIS1-Related Isolated Lissencephaly: Spectrum of Mutations and Relationships With Malformation Severity
10. The three stages of epilepsy in patients with CDKL5 mutations
11. Mutation Frequencies of X-linked Mental Retardation Genes in Families from the EuroMRX Consortium
12. Oligophrenin-1 encodes a rhoGAP protein involved in X-linked mental retardation
13. Inherited microdeletion in Xp21.3-22.1 involved in non-specific mental retardation
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