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14 results on '"Nava, C."'

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1. Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3

2. Developmental and symptom profiles in early-onset psychosis

3. Models for clonal evolutions: a study of chronic myelogenous leukemia

4. Surfactant protein D and KL-6 serum levels in systemic sclerosis: Correlation with lung and systemic involvement

5. Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2

6. Prevalence, associated factors and outcomes of pressure injuries in adult intensive care unit patients: the DecubICUs study

7. Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy

8. KCNT1-related epilepsies and epileptic encephalopathies: phenotypic and mutational spectrum

9. Damaging de novo missense variants in EEF1A2lead to a developmental and degenerative epileptic-dyskinetic encephalopathy

10. Changes in leg cycling muscle synergies after training augmented by functional electrical stimulation in subacute stroke survivors: a pilot study

11. AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders

12. HCN1 mutation spectrum: from neonatal epileptic encephalopathy to benign generalized epilepsy and beyond

13. The landscape of epilepsy-related GATOR1 variants

14. Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: A Gradient of Severity in Cognitive Impairments

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