Found: 12
Select item for more details and to access through your institution.
Novel Missense CACNA1G Mutations Associated with Infantile-Onset Developmental and Epileptic Encephalopathy.
- Published in:
- International Journal of Molecular Sciences, 2020, v. 21, n. 17, p. 6333, doi. 10.3390/ijms21176333
- By:
- Publication type:
- Article
Functional correlates of clinical phenotype and severity in recurrent SCN2A variants.
- Published in:
- Communications Biology, 2022, v. 5, n. 1, p. 1, doi. 10.1038/s42003-022-03454-1
- By:
- Publication type:
- Article
High resolution chromosomal microarray in undiagnosed neurological disorders.
- Published in:
- Journal of Paediatrics & Child Health, 2013, v. 49, n. 9, p. 716, doi. 10.1111/jpc.12256
- By:
- Publication type:
- Article
Juvenile Parkinsonism.
- Published in:
- Journal of Paediatrics & Child Health, 2013, v. 49, n. 5, p. 409, doi. 10.1111/j.1440-1754.2012.02555.x
- By:
- Publication type:
- Article
Vitamin D Status in Tasmanian Children with Cerebral Palsy.
- Published in:
- Journal of Paediatrics & Child Health, 2013, v. 49, n. 4, p. E349, doi. 10.1111/jpc.12144
- By:
- Publication type:
- Article
Epileptic spasms: Experience with a high-dose oral corticosteroid protocol.
- Published in:
- Journal of Paediatrics & Child Health, 2012, v. 48, n. 11, p. 985, doi. 10.1111/j.1440-1754.2012.02582.x
- By:
- Publication type:
- Article
VENLAFAXINE INGESTION IN A 4-YEAR-OLD GIRL.
- Published in:
- Journal of Paediatrics & Child Health, 2012, v. 48, n. 11, p. 1047, doi. 10.1111/j.1440-1754.2012.02600.x
- By:
- Publication type:
- Article
Splice variant in ARX leading to loss of C‐terminal region in a boy with intellectual disability and infantile onset developmental and epileptic encephalopathy.
- Published in:
- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 8, p. 1483, doi. 10.1002/ajmg.a.61216
- By:
- Publication type:
- Article
Typical and atypical phenotypes of PNPO deficiency with elevated CSF and plasma pyridoxamine on treatment.
- Published in:
- Developmental Medicine & Child Neurology, 2014, v. 56, n. 5, p. 498, doi. 10.1111/dmcn.12346
- By:
- Publication type:
- Article
Epidemiology and etiology of infantile developmental and epileptic encephalopathies in Tasmania.
- Published in:
- Epilepsia Open, 2019, v. 4, n. 3, p. 504, doi. 10.1002/epi4.12350
- By:
- Publication type:
- Article
Childhood Chronic Inflammatory Demyelinating Polyneuropathy: An Overview of 10 Cases in the Modern Era.
- Published in:
- 2014
- By:
- Publication type:
- Case Study
Australian Clinical Consensus Guideline: The diagnosis and acute management of childhood stroke.
- Published in:
- International Journal of Stroke, 2019, v. 14, n. 1, p. 94, doi. 10.1177/1747493018799958
- By:
- Publication type:
- Article