48 results on '"Palmer, Elizabeth E."'
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2. “Somewhere to turn to with my questions”: A pre-post pilot of an information linker service for caregivers who have a child with a Developmental and Epileptic Encephalopathy
3. Potassium Channel Mutations in Epilepsy
4. PhenoScore quantifies phenotypic variation for rare genetic diseases by combining facial analysis with other clinical features using a machine-learning framework
5. Learning to make a difference for chILD: Value creation through network collaboration and team science
6. Anti-seizure mechanisms of midazolam and valproate at the β2(L51M) variant of the GABAA receptor
7. Hearing parents' voices: A priority-setting workshop to inform a suite of psychological resources for parents of children with rare genetic epilepsies
8. Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition
9. ‘Advocacy groups are the connectors’: Experiences and contributions of rare disease patient organization leaders in advanced neurotherapeutics
10. Co-design, implementation, and evaluation of plain language genomic test reports
11. Acceptability and feasibility of an online information linker service for caregivers who have a child with genetic epilepsy: a mixed-method pilot study protocol
12. Hope in the uncertainties and certainty for parents of children with rare neurological disorders: Part 2 (of 3): Certainty
13. Hope in the uncertainties and certainty for parents of children with rare neurological disorders. Part I (of 3): Uncertainty
14. Hope in the uncertainties and certainty for parents of children with rare neurological disorders: Part 3 (of 3): Hope
15. Automated detection of ADHD: Current trends and future perspective
16. The involvement of rare disease patient organisations in therapeutic innovation across rare paediatric neurological conditions: a narrative review
17. The opinions and experiences of people with intellectual disability regarding genetic testing and genetic medicine: A systematic review
18. Piloting positive psychology resources for caregivers of a child with a genetic developmental and epileptic encephalopathy
19. Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants
20. Application of Deep Learning Models for Automated Identification of Parkinson’s Disease: A Review (2011–2021)
21. PIGG variant pathogenicity assessment reveals characteristic features within 19 families
22. Feasibility of a mental health informed physical activity intervention for the carers of children with developmental and epileptic encephalopathy
23. Quantitative neurogenetics: applications in understanding disease
24. Siblings of young people with chronic illness: Caring responsibilities and psychosocial functioning
25. CHEDDA syndrome is an underrecognized neurodevelopmental disorder with a highly restricted ATN1 mutation spectrum
26. Natural History Studies and Clinical Trial Readiness for Genetic Developmental and Epileptic Encephalopathies
27. Different types of disease‐causing noncoding variants revealed by genomic and gene expression analyses in families with X‐linked intellectual disability
28. RLIM Is a Candidate Dosage-Sensitive Gene for Individuals with Varying Duplications of Xq13, Intellectual Disability, and Distinct Facial Features
29. The information needs of parents of children with early-onset epilepsy: A systematic review
30. Pre‐genetics clinic resource evaluation for adults with intellectual disability: The pre‐genetics clinic aid
31. Intracellular CLC Transporters - From Kidney Stones to Intellectual Disability
32. De novo and biallelic DEAF1 variants cause a phenotypic spectrum
33. Variants in TCF20 in neurodevelopmental disability: description of 27 new patients and review of literature
34. Significantly Elevated FMR1 mRNA and Mosaicism for Methylated Premutation and Full Mutation Alleles in Two Brothers with Autism Features Referred for Fragile X Testing
35. STXBP1 encephalopathy
36. De Novo Variants Disrupting the HX Repeat Motif of ATN1 Cause a Recognizable Non-progressive Neurocognitive Syndrome
37. De Novo Variants Disrupting the HX Repeat Motif of ATN1 Cause a Recognizable Non-Progressive Neurocognitive Syndrome
38. Expanding the spectrum of PEX16 mutations and novel insights into disease mechanisms
39. Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies
40. A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia, whereas Haploinsufficiency Causes Developmental Delay and Seizures
41. Integrating exome sequencing into a diagnostic pathway for epileptic encephalopathy: Evidence of clinical utility and cost effectiveness
42. A Recurrent De Novo Nonsense Variant in ZSWIM6 Results in Severe Intellectual Disability without Frontonasal or Limb Malformations
43. Current use of chromosomal microarray by Australian paediatricians and implications for the implementation of next generation sequencing
44. Genetics of Epileptic Encephalopathies
45. Eight further individuals with intellectual disability and epilepsy carrying bi-allelicCNTNAP2aberrations allow delineation of the mutational and phenotypic spectrum
46. Neuronal deficiency ofARV1causes an autosomal recessive epileptic encephalopathy
47. THOC2 Mutations Implicate mRNA-Export Pathway in X-Linked Intellectual Disability
48. Chromosome microarray in Australia: A guide for paediatricians
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