Detalhe da pesquisa
1.
De novo variants in DENND5B cause a neurodevelopmental disorder.
Am J Hum Genet
; 111(3): 529-543, 2024 Mar 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-38387458
2.
Global modified Delphi consensus on diagnosis, phenotypes, and treatment of SCN8A-related epilepsy and/or neurodevelopmental disorders.
Epilepsia
; 2024 May 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-38802994
3.
Bi-allelic ADARB1 Variants Associated with Microcephaly, Intellectual Disability, and Seizures.
Am J Hum Genet
; 106(4): 467-483, 2020 04 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-32220291
4.
A quality improvement initiative to improve folic acid supplementation counseling for adolescent females with epilepsy.
Epilepsia
; 64(10): 2818-2826, 2023 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-37496463
5.
Child neurology telemedicine: Analyzing 14 820 patient encounters during the first year of the COVID-19 pandemic.
Dev Med Child Neurol
; 65(3): 406-415, 2023 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38767061
6.
KCNT1-related epilepsies and epileptic encephalopathies: phenotypic and mutational spectrum.
Brain
; 144(12): 3635-3650, 2021 12 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-34114611
7.
Periodic and rhythmic patterns in critically ill children: Incidence, interrater agreement, and seizures.
Epilepsia
; 62(12): 2955-2967, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34642942
8.
Assessing seizure burden in pediatric epilepsy using an electronic medical record-based tool through a common data element approach.
Epilepsia
; 62(7): 1617-1628, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34075580
9.
Design and implementation of electronic health record common data elements for pediatric epilepsy: Foundations for a learning health care system.
Epilepsia
; 62(1): 198-216, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33368200
10.
RUNX1 and RUNX2 transcription factors function in opposing roles to regulate breast cancer stem cells.
J Cell Physiol
; 235(10): 7261-7272, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32180230
11.
A deletion in Eml1 leads to bilateral subcortical heterotopia in the tish rat.
Neurobiol Dis
; 140: 104836, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32179177
12.
Further delineation of the phenotypic spectrum of nevus comedonicus syndrome to include congenital pulmonary airway malformation of the lung and aneurysm.
Am J Med Genet A
; 182(4): 746-754, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31961058
13.
Early discontinuation of antiseizure medications in neonates with hypoxic-ischemic encephalopathy.
Epilepsia
; 58(6): 1047-1053, 2017 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-28401998
14.
Acute psychosis presenting in a patient with systemic lupus erythematosus: Questions and Answers.
Pediatr Nephrol
; 31(2): 227-31, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25634549
15.
Late-Onset Findings During Extended EEG Monitoring Are Rare in Critically Ill Children.
J Clin Neurophysiol
; 2024 Apr 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-38687298
16.
Leveraging electronic medical record-embedded standardised electroencephalogram reporting to develop neonatal seizure prediction models: a retrospective cohort study.
Lancet Digit Health
; 5(4): e217-e226, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36963911
17.
Periodic Discharges in Critically Ill Children: Predictors and Outcome.
J Clin Neurophysiol
; 2023 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38079254
18.
Gain-of-function variants in the ion channel gene TRPM3 underlie a spectrum of neurodevelopmental disorders.
Elife
; 122023 01 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-36648066
19.
Expanding Access to Continuous EEG Monitoring in Neonatal Intensive Care Units.
J Clin Neurophysiol
; 38(6): 525-529, 2021 Nov 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32541608
20.
Analyzing 2,589 child neurology telehealth encounters necessitated by the COVID-19 pandemic.
Neurology
; 95(9): e1257-e1266, 2020 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32518152