Found: 34
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Pulmonary capillary haemangiomatosis in a premature infant.
- Published in:
- 2005
- By:
- Publication type:
- journal article
Somatic IDH1 variant (p.R132C) in an adult male with Maffucci syndrome.
- Published in:
- 2021
- By:
- Publication type:
- Case Study
The clinical, imaging, pathological and genetic landscape of bottom-of-sulcus dysplasia.
- Published in:
- Brain: A Journal of Neurology, 2024, v. 147, n. 4, p. 1264, doi. 10.1093/brain/awad379
- By:
- Publication type:
- Article
Dorsal language stream anomalies in an inherited speech disorder.
- Published in:
- 2019
- By:
- Publication type:
- journal article
ATAD3 gene cluster deletions cause cerebellar dysfunction associated with altered mitochondrial DNA and cholesterol metabolism.
- Published in:
- 2017
- By:
- Publication type:
- journal article
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
Myoclonus epilepsy and ataxia due to KCNC1 mutation: Analysis of 20 cases and K<sup>+</sup> channel properties.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Familial cortical dysplasia caused by mutation in the mammalian target of rapamycin regulator NPRL3.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Mutations in mammalian target of rapamycin regulator DEPDC5 cause focal epilepsy with brain malformations.
- Published in:
- Annals of Neurology, 2014, v. 75, n. 5, p. 782, doi. 10.1002/ana.24126
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- Publication type:
- Article
Dominant-negative effects of KCNQ2 mutations are associated with epileptic encephalopathy.
- Published in:
- Annals of Neurology, 2014, v. 75, n. 3, p. 382, doi. 10.1002/ana.24080
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- Publication type:
- Article
Second‐hit DEPDC5 mutation is limited to dysmorphic neurons in cortical dysplasia type IIA.
- Published in:
- Annals of Clinical & Translational Neurology, 2019, v. 6, n. 7, p. 1338, doi. 10.1002/acn3.50815
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- Publication type:
- Article
Familial cortical dysplasia type IIA caused by a germline mutation in DEPDC5.
- Published in:
- Annals of Clinical & Translational Neurology, 2015, v. 2, n. 5, p. 575, doi. 10.1002/acn3.191
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- Publication type:
- Article
DRAXIN regulates interhemispheric fissure remodelling to influence the extent of corpus callosum formation.
- Published in:
- eLife, 2021, p. 1, doi. 10.7554/eLife.61618
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- Publication type:
- Article
Aicardi Syndrome Is a Genetically Heterogeneous Disorder.
- Published in:
- Genes, 2023, v. 14, n. 8, p. 1565, doi. 10.3390/genes14081565
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- Publication type:
- Article
EML1‐associated brain overgrowth syndrome with ribbon‐like heterotopia.
- Published in:
- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2019, v. 181, n. 4, p. 627, doi. 10.1002/ajmg.c.31751
- By:
- Publication type:
- Article
Aortic duplication artefact in a 14-year-old girl.
- Published in:
- 2004
- By:
- Publication type:
- journal article
MRI of optic disc edema in childhood idiopathic intracranial hypertension.
- Published in:
- 2004
- By:
- Publication type:
- journal article
Angiographic features of 26 children with Takayasu's arteritis.
- Published in:
- Pediatric Radiology, 2003, v. 33, n. 4, p. 230, doi. 10.1007/s00247-002-0817-1
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- Publication type:
- Article
Early‐onset vitamin B<sub>6</sub>‐dependent epilepsy due to pathogenic PLPBP variants in a premature infant: A case report and review of the literature.
- Published in:
- Journal of Inherited Metabolic Disease Reports, 2021, v. 58, n. 1, p. 3, doi. 10.1002/jmd2.12183
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- Publication type:
- Article
Neuronal ceroid lipofuscinosis type 2: an Australian case series.
- Published in:
- 2020
- By:
- Publication type:
- journal article
Clinical and imaging heterogeneity of polymicrogyria: a study of 328 patients.
- Published in:
- Brain: A Journal of Neurology, 2010, v. 133, n. 5, p. 1415, doi. 10.1093/brain/awq078
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- Publication type:
- Article
Infantile‐onset myoclonic developmental and epileptic encephalopathy: A new RARS2 phenotype.
- Published in:
- Epilepsia Open, 2022, v. 7, n. 1, p. 170, doi. 10.1002/epi4.12553
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- 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
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- Publication type:
- Article
A cryptic pathogenic NDUFV1 variant identified by RNA‐seq in a patient with normal complex I activity in muscle and transient magnetic resonance imaging changes.
- Published in:
- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 6, p. 1599, doi. 10.1002/ajmg.a.63170
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- Publication type:
- Article
Mosaic uniparental disomy results in GM1 gangliosidosis with normal enzyme assay.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 1, p. 230, doi. 10.1002/ajmg.a.38549
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- Publication type:
- Article
A mutation in COL4A2 causes autosomal dominant porencephaly with cataracts.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 4, p. 1059, doi. 10.1002/ajmg.a.37527
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- Publication type:
- Article
5q31.3 Microdeletion syndrome: Clinical and molecular characterization of two further cases.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 10, p. 2604, doi. 10.1002/ajmg.a.36108
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- Publication type:
- Article
KCNQ2 encephalopathy: Emerging phenotype of a neonatal epileptic encephalopathy.
- Published in:
- Annals of Neurology, 2012, v. 71, n. 1, p. 15, doi. 10.1002/ana.22644
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- Publication type:
- Article
WWOX developmental and epileptic encephalopathy: Understanding the epileptology and the mortality risk.
- Published in:
- Epilepsia (Series 4), 2023, v. 64, n. 5, p. 1351, doi. 10.1111/epi.17542
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- Publication type:
- Article
The severe epilepsy syndromes of infancy: A population‐based study.
- Published in:
- Epilepsia (Series 4), 2021, v. 62, n. 2, p. 358, doi. 10.1111/epi.16810
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- Publication type:
- Article
A population‐based cost‐effectiveness study of early genetic testing in severe epilepsies of infancy.
- Published in:
- Epilepsia (Series 4), 2018, v. 59, n. 6, p. 1177, doi. 10.1111/epi.14087
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- Publication type:
- Article
Severe infantile onset developmental and epileptic encephalopathy caused by mutations in autophagy gene <italic>WDR45</italic>.
- Published in:
- Epilepsia (Series 4), 2018, v. 59, n. 1, p. e5, doi. 10.1111/epi.13957
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- Publication type:
- Article
The epileptology of Koolen-de Vries syndrome: Electro-clinico-radiologic findings in 31 patients.
- Published in:
- Epilepsia (Series 4), 2017, v. 58, n. 6, p. 1085, doi. 10.1111/epi.13746
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- Publication type:
- Article
Is focal cortical dysplasia sporadic? Family evidence for genetic susceptibility.
- Published in:
- Epilepsia (Series 4), 2014, v. 55, n. 3, p. e22, doi. 10.1111/epi.12533
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- Publication type:
- Article