Search

Your search keyword '"Constance Smith-Hicks"' showing total 46 results

Search Constraints

Start Over You searched for: Author "Constance Smith-Hicks" Remove constraint Author: "Constance Smith-Hicks"
46 results on '"Constance Smith-Hicks"'

Search Results

1. Cortical Vision Impairment (CVI)-informed assessment and treatment of challenging behavior in a child with SCN2A-related disorder

2. Randomized clinical trial of low dose suramin intravenous infusions for treatment of autism spectrum disorder

3. Sleep Abnormalities in the Synaptopathies—SYNGAP1-Related Intellectual Disability and Phelan–McDermid Syndrome

4. Development of informant‐report neurobehavioral survey scales for <scp>PTEN</scp> hamartoma tumor syndrome and related neurodevelopmental genetic syndromes

6. Meaningful Improvements in Rett Syndrome: A Qualitative Study of Caregivers

8. Heterozygous NOTCH1 Variants Cause CNS Immune Activation and Microangiopathy

9. Sleep Abnormalities in the Synaptopathies—SYNGAP1-Related Intellectual Disability and Phelan–McDermid Syndrome

10. BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations

11. Delineating the genotypic and phenotypic spectrum of HECW2-related neurodevelopmental disorders

12. De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder

13. Delineating the genotypic and phenotypic spectrum of

14. Truncating variants in the SHANK1 gene are associated with a spectrum of neurodevelopmental disorders

15. De novo variants in POLR3B cause ataxia, spasticity, and demyelinating neuropathy

16. Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss

17. Determining the pathogenicity of variants of uncertain significance and identification of a founder variant in the epilepsy-associated gene, SZT2

18. Author response for 'Heterozygous de novo variants in <scp> CSNK1G1 </scp> are associated with syndromic developmental delay and autism spectrum disorder'

19. Heterozygous de novo variants in CSNK1G1 are associated with syndromic developmental delay and autism spectrum disorder

20. The broad phenotypic spectrum of PPP2R1A -related neurodevelopmental disorders correlates with the degree of biochemical dysfunction

21. NFIB Haploinsufficiency Is Associated with Intellectual Disability and Macrocephaly

22. SURAMIN INTRAVENOUS INFUSION FOR TREATING BOYS WITH AUTISM SPECTRUM DISORDER: RESULTS OF A 14-WEEK, RANDOMIZED, DOUBLE-BLIND, PLACEBO-CONTROLLED, MULTIDOSE, PHASE 2 STUDY

23. Randomized open-label trial of dextromethorphan in Rett syndrome

24. Evaluation of QTc in Rett syndrome: Correlation with age, severity, and genotype

25. Rett Syndrome and CDKL5 Deficiency Disorder: From Bench to Clinic

26. De Novo Missense Variants in FBXW11 Cause Diverse Developmental Phenotypes Including Brain, Eye, and Digit Anomalies

27. Caregivers' perception of and experience with variants of uncertain significance from whole exome sequencing for children with undiagnosed conditions

28. Natural History and Genotype-Phenotype Correlations in 72 Individuals with SATB2-Associated Syndrome

29. De Novo HECW2 Mutation Associated With Epilepsy, Developmental Decline, and Intellectual Disability: Case Report and Review of Literature

30. A PIGH mutation leading to GPI deficiency is associated with developmental delay and autism

31. Monogenic disorders that mimic the phenotype of Rett syndrome

32. Neuroimaging Abnormalities in a Child With Infantile Spasms on High-Dose Vigabatrin

33. Increased Sparsity of Hippocampal CA1 Neuronal Ensembles in a Mouse Model of Down Syndrome Assayed by Arc Expression

34. GABAergic dysfunction in pediatric neuro-developmental disorders

35. SRF binding to SRE 6.9 in the Arc promoter is essential for LTD in cultured Purkinje cells

36. Functional integration of new neurons into hippocampal networks and poststroke comorbidities following neonatal stroke in mice

39. Elongation factor 2 and fragile X mental retardation protein control the dynamic translation of Arc/Arg3.1 essential for mGluR-LTD

40. A double blind randomized placebo control trial of levetiracetam in Tourette syndrome

42. List of Contributors

43. Tourette Syndrome

44. C-cell hyperplasia, pheochromocytoma and sympathoadrenal malformation in a mouse model of multiple endocrine neoplasia type 2B

45. Activity-Induced Notch Signaling in Neurons Requires Arc/Arg3.1 and Is Essential for Synaptic Plasticity in Hippocampal Networks

46. De novo variants in MAPK8IP3 cause intellectual disability with variable brain anomalies

Catalog

Books, media, physical & digital resources