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A single center experience with publicly funded clinical exome sequencing for neurodevelopmental disorders or multiple congenital anomalies.
- Published in:
- Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-98646-w
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- Article
5-ASA and lycopene decrease the oxidative stress and inflammation induced by iron in rats with colitis.
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- Journal of Gastroenterology, 2004, v. 39, n. 6, p. 514, doi. 10.1007/s00535-003-1336-z
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- Article
Congenital Mirror Movements Associated With Brain Malformations.
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- Journal of Child Neurology, 2021, v. 36, n. 7, p. 545, doi. 10.1177/0883073820984068
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- Article
CAOS—Episodic Cerebellar Ataxia, Areflexia, Optic Atrophy, and Sensorineural Hearing Loss.
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- Journal of Child Neurology, 2015, v. 30, n. 13, p. 1749, doi. 10.1177/0883073815579708
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- Article
The Many Faces of Glut1 Deficiency Syndrome.
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- Journal of Child Neurology, 2014, v. 29, n. 3, p. 349, doi. 10.1177/0883073812471718
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- Article
Epilepsy in Rett syndrome-Lessons from the Rett networked database.
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- Epilepsia (Series 4), 2015, v. 56, n. 4, p. 569, doi. 10.1111/epi.12941
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- Article
Epilepsy in Rett syndrome—The experience of a National Rett Center.
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- Epilepsia (Series 4), 2010, v. 51, n. 7, p. 1252, doi. 10.1111/j.1528-1167.2010.02597.x
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- Article
Clinical spectrum and medical treatment of children with electrical status epilepticus in sleep (ESES).
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- Epilepsia (Series 4), 2009, v. 50, n. 6, p. 1517, doi. 10.1111/j.1528-1167.2008.01891.x
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- Article
A novel PEX12 mutation identified as the cause of a peroxisomal biogenesis disorder with mild clinical phenotype, mild biochemical abnormalities in fibroblasts and a mosaic catalase immunofluorescence pattern, even at 40 °C.
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- Journal of Human Genetics, 2007, v. 52, n. 7, p. 599, doi. 10.1007/s10038-007-0157-y
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- Article
Editorial: Personalized precision medicine in autism spectrum related disorders, volume II.
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- Frontiers in Neurology, 2024, p. 1, doi. 10.3389/fneur.2024.1392642
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- Article
Bilateral polymicrogyria associated with dystonia: A new neurogenetic syndrome?
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 10, p. 2207, doi. 10.1002/ajmg.a.61795
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- Article
Reversible airway obstruction in children with ataxia telangiectasia.
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- Pediatric Pulmonology, 2010, v. 45, n. 3, p. 230, doi. 10.1002/ppul.21095
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- Article
Economic aspects of prolonged home video-EEG monitoring: a simulation study.
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- Cost Effectiveness & Resource Allocation, 2024, v. 22, n. 1, p. 1, doi. 10.1186/s12962-024-00568-7
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- Article
Perampanel as precision therapy in rare genetic epilepsies.
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- Epilepsia (Series 4), 2023, v. 64, n. 4, p. 866, doi. 10.1111/epi.17530
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- Article
Analysis of the Phenotypes in the Rett Networked Database.
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- International Journal of Genomics, 2019, p. 1, doi. 10.1155/2019/6956934
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- Article
Felbamate for pediatric epilepsy--should we keep on using it as the last resort?
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- Frontiers in Neurology, 2022, v. 13, p. 1, doi. 10.3389/fneur.2022.979725
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- Article
Functional parameter measurements in children with ataxia telangiectasia.
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- 2020
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- journal article
Liver Disease in Pediatric Patients With Ataxia Telangiectasia: A Novel Report.
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- 2016
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- journal article
Movement Disorder in Ataxia-Telangiectasia: Treatment With Amantadine Sulfate.
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- Journal of Child Neurology, 2013, v. 28, n. 2, p. 155, doi. 10.1177/0883073812441999
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- Article
Magnetic Resonance Imaging and Magnetic Resonance Spectroscopy in Isolated Sulfite Oxidase Deficiency.
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- Journal of Child Neurology, 2007, v. 22, n. 10, p. 1214, doi. 10.1177/0883073807306260
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- Article
Muscle Glycogen Depletion and Increased Oxidative Phosphorylation Following Status Epilepticus.
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- Journal of Child Neurology, 2003, v. 18, n. 12, p. 876, doi. 10.1177/088307380301801208
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- Article
Neurologic Presentations of Mitochondrial Disorders.
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- Journal of Child Neurology, 2000, v. 15, n. 1, p. 44
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- Article
Postictal Psychosis in a Child.
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- Journal of Child Neurology, 1999, v. 14, n. 12, p. 818, doi. 10.1177/088307389901401209
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- Publication type:
- Article
Characterization of a de novo GABBR2 variant linked to autism spectrum disorder.
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- Frontiers in Molecular Neuroscience, 2023, p. 1, doi. 10.3389/fnmol.2023.1267343
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- Article
Netrin‐G2 dysfunction causes a Rett‐like phenotype with areflexia.
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- Human Mutation, 2020, v. 41, n. 2, p. 476, doi. 10.1002/humu.23945
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- Article
In vivo, in vitro and in silico correlations of four de novo SCN1A missense mutations.
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- PLoS ONE, 2019, v. 14, n. 2, p. 1, doi. 10.1371/journal.pone.0211901
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- Article
Hereditary neuropathy with liability to pressure palsies (HNPP): Intrafamilial phenotypic variability and early childhood refusal to walk as the presenting symptom.
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- Italian Journal of Pediatrics, 2022, v. 48, n. 1, p. 1, doi. 10.1186/s13052-022-01280-z
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- Article
Donepezil as a new therapeutic potential in KCNQ2- and KCNQ3-related autism.
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- Frontiers in Cellular Neuroscience, 2024, p. 01, doi. 10.3389/fncel.2024.1380442
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- Article