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Harnessing innovation to help meet the needs of elders: field testing an electronic tool to streamline geriatric assessments across healthcare settings.
- Published in:
- Family Medicine & Community Health, 2024, v. 12, n. 2, p. 1, doi. 10.1136/fmch-2024-002729
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- Publication type:
- Article
Women's Intention to Abort a Fetus Diagnosed With a Genetic Disease: Results From Israel, Cyprus, and Germany.
- Published in:
- SAGE Open, 2023, v. 13, n. 3, p. 1, doi. 10.1177/21582440231184974
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- Publication type:
- Article
Women's Intention to Abort a Fetus DiagnosedWith a Genetic Disease: Results From Israel, Cyprus, and Germany.
- Published in:
- SAGE Open, 2023, v. 13, n. 2, p. 1, doi. 10.1177/21582440231184974
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- Publication type:
- Article
Exome-based analysis of cardiac arrhythmia, respiratory control, and epilepsy genes in sudden unexpected death in epilepsy.
- Published in:
- 2016
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- Publication type:
- journal article
Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.
- Published in:
- Nature Genetics, 2013, v. 45, n. 7, p. 825, doi. 10.1038/ng.2646
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- Publication type:
- Article
Mutations in DEPDC5 cause familial focal epilepsy with variable foci.
- Published in:
- Nature Genetics, 2013, v. 45, n. 5, p. 546, doi. 10.1038/ng.2599
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- Publication type:
- Article
A compound heterozygous missense mutation and a large deletion in the KCTD7 gene presenting as an opsoclonus-myoclonus ataxia-like syndrome.
- Published in:
- Journal of Neurology, 2012, v. 259, n. 12, p. 2590, doi. 10.1007/s00415-012-6545-z
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- Publication type:
- Article
Clinical Research Genetic Architecture of Idiopathic Generalized Epilepsy: Clinical Genetic Analysis of 55 Multiplex Families.
- Published in:
- Epilepsia (Series 4), 2004, v. 45, n. 5, p. 467, doi. 10.1111/j.0013-9580.2004.46803.x
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- Publication type:
- Article
Long-term Cognitive Outcomes of a Cohort of Children with Cryptogenic Infantile Spasms Treated with High-dose Adrenocorticotropic Hormone.
- Published in:
- Epilepsia (Series 4), 2004, v. 45, n. 3, p. 255, doi. 10.1111/j.0013-9580.2004.30503.x
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- Publication type:
- Article
Linguistic Processing in Idiopathic Generalized Epilepsy: An Auditory Event-related Potential Study.
- Published in:
- Epilepsia (Series 4), 2003, v. 44, n. 9, p. 1207, doi. 10.1046/j.1528-1157.2003.65402.x
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- Publication type:
- Article
Panayiotopoulos syndrome: a consensus view.
- Published in:
- Developmental Medicine & Child Neurology, 2006, v. 48, n. 3, p. 236, doi. 10.1017/S0012162206000508
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- Publication type:
- Article
Cognitive function in idiopathic generalized epilepsy of childhood.
- Published in:
- 2005
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- Publication type:
- journal article
Cognitive function in idiopathic generalized epilepsy of childhood.
- Published in:
- Developmental Medicine & Child Neurology, 2005, v. 47, n. 2, p. 126, doi. 10.1017/S0012162205000228
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- Publication type:
- Article
Effect of early corticosteroid therapy for Landau-Kleffner syndrome.
- Published in:
- 1991
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- Publication type:
- journal article
Modeling mortality prediction in older adults with dementia receiving COVID-19 vaccination.
- Published in:
- BMC Geriatrics, 2024, v. 24, n. 1, p. 1, doi. 10.1186/s12877-024-04982-7
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- Publication type:
- Article
Benign occipital epilepsies of childhood: clinical features and genetics.
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- Brain: A Journal of Neurology, 2008, v. 131, n. 9, p. 2287, doi. 10.1093/brain/awn138
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- Publication type:
- Article
Paroxysmal exercise-induced dyskinesia and epilepsy is due to mutations in SLC2A1, encoding the glucose transporter GLUT1.
- Published in:
- Brain: A Journal of Neurology, 2008, v. 131, n. 7, p. 1831, doi. 10.1093/brain/awn113
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- Publication type:
- Article
Epilepsy and mental retardation limited to females: an under-recognized disorder.
- Published in:
- Brain: A Journal of Neurology, 2008, v. 131, n. 4, p. 918, doi. 10.1093/brain/awm338
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- Publication type:
- Article
Exploring the Self-Reported Physical and Psychological Effects in a Population Exposed to a Regional Conflict.
- Published in:
- Journal of Community Health, 2024, v. 49, n. 4, p. 674, doi. 10.1007/s10900-024-01337-6
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- Publication type:
- Article
Delineation of the interstitial 6q25 microdeletion syndrome: Refinement of the critical causative region.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 6, p. 1395, doi. 10.1002/ajmg.a.35361
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- Publication type:
- Article
Glucose transporter 1 deficiency in the idiopathic generalized epilepsies.
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- Annals of Neurology, 2012, v. 72, n. 5, p. 807, doi. 10.1002/ana.23702
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- Publication type:
- Article
Frequency of CNKSR2 mutation in the X-linked epilepsy-aphasia spectrum.
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- Epilepsia (Series 4), 2017, v. 58, n. 3, p. e40, doi. 10.1111/epi.13666
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- Publication type:
- Article
The molecular and phenotypic spectrum of IQSEC2-related epilepsy.
- Published in:
- Epilepsia (Series 4), 2016, v. 57, n. 11, p. 1858, doi. 10.1111/epi.13560
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- Publication type:
- Article
Familial neonatal seizures in 36 families: Clinical and genetic features correlate with outcome.
- Published in:
- Epilepsia (Series 4), 2015, v. 56, n. 7, p. 1071, doi. 10.1111/epi.13020
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- Publication type:
- Article
Role of the sodium channel SCN9A in genetic epilepsy with febrile seizures plus and Dravet syndrome.
- Published in:
- Epilepsia (Series 4), 2013, v. 54, n. 9, p. e122, doi. 10.1111/epi.12323
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- Publication type:
- Article
Resolution of epileptic encephalopathy following treatment with transdermal nicotine.
- Published in:
- Epilepsia (Series 4), 2013, v. 54, n. 1, p. e13, doi. 10.1111/j.1528-1167.2012.03715.x
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- Publication type:
- Article
Mild adolescent/adult onset epilepsy and paroxysmal exercise-induced dyskinesia due to GLUT1 deficiency.
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- Epilepsia (Series 4), 2010, v. 51, n. 12, p. 2466, doi. 10.1111/j.1528-1167.2010.02726.x
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- Publication type:
- Article
SCN1A duplications and deletions detected in Dravet syndrome: Implications for molecular diagnosis.
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- Epilepsia (Series 4), 2009, v. 50, n. 7, p. 1670, doi. 10.1111/j.1528-1167.2009.02013.x
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- Publication type:
- Article
Defective Auditory Processing in a Child With Temporal Epileptic Focus.
- Published in:
- 2015
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- Publication type:
- Case Study
Idiopathic Photosensitive Occipital Epilepsy: Clinical and Electroencephalographic (EEG) Features.
- Published in:
- Journal of Child Neurology, 2014, v. 29, n. 3, p. 307, doi. 10.1177/0883073812473366
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- Publication type:
- Article
Long-term Follow-up for Ophthalmologic Sequelae in Children Treated With Corticosteroids for Infantile Spasms.
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- Journal of Child Neurology, 2012, v. 27, n. 3, p. 332, doi. 10.1177/0883073811420494
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- Publication type:
- Article
Selective Mutism and Abnormal Electroencephalography (EEG) Tracings.
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- Journal of Child Neurology, 2011, v. 26, n. 11, p. 1377, doi. 10.1177/0883073811406731
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- Publication type:
- Article
Congenital Ataxia, Mental Retardation, and Dyskinesia Associated With a Novel CACNA1A Mutation.
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- Journal of Child Neurology, 2010, v. 25, n. 7, p. 892, doi. 10.1177/0883073809351316
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- Publication type:
- Article
Congenital Hydrocephalus and Continuous Spike Wave in Slow-Wave Sleep -- A Common Association?
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- Journal of Child Neurology, 2004, v. 19, n. 2, p. 129, doi. 10.1177/08830738040190020801
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- Publication type:
- Article
Clinical Experience With Open-Label Topiramate Use in Infants Younger Than 2 Years of Age.
- Published in:
- Journal of Child Neurology, 2003, v. 18, n. 4, p. 258, doi. 10.1177/08830738030180040901
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- Publication type:
- Article