Detalhe da pesquisa
1.
Tob Regulates the Timing of Sleep Onset at Night in Drosophila.
J Neurosci
; 44(18)2024 May 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38485259
2.
De novo GRIN variants in M3 helix associated with neurological disorders control channel gating of NMDA receptor.
Cell Mol Life Sci
; 81(1): 153, 2024 Mar 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-38538865
3.
Clinical and functional consequences of GRIA variants in patients with neurological diseases.
Cell Mol Life Sci
; 80(11): 345, 2023 Nov 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-37921875
4.
An Analysis of Surgical Factors Associated with Clinically Significant Eyelid Edema (CSEE) in Patients Undergoing Blepharoplasty: Lid Crease Techniques Associated with CSEE.
Ophthalmic Plast Reconstr Surg
; 2024 May 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-38722778
5.
Genotype-phenotype correlations in RHOBTB2-associated neurodevelopmental disorders.
Genet Med
; 25(8): 100885, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37165955
6.
Alleviating Financial Hardships Associated with High-Deductible Health Plans for Adults with Chronic Conditions Through Health Savings Accounts.
J Gen Intern Med
; 38(7): 1593-1598, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36600078
7.
Somatic variants in diverse genes leads to a spectrum of focal cortical malformations.
Brain
; 145(8): 2704-2720, 2022 08 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-35441233
8.
Expanding the phenotype of HNRNPU-related neurodevelopmental disorder with emphasis on seizure phenotype and review of literature.
Am J Med Genet A
; 188(5): 1497-1514, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35138025
9.
The ClinGen Epilepsy Gene Curation Expert Panel-Bridging the divide between clinical domain knowledge and formal gene curation criteria.
Hum Mutat
; 39(11): 1476-1484, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30311377
10.
Re: "Correlation of Automated Computed Tomography Volumetric Analysis Metrics With Motility Disturbances in Thyroid Eye Disease".
Ophthalmic Plast Reconstr Surg
; 39(2): 194, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-36867765
11.
Heterozygous HNRNPU variants cause early onset epilepsy and severe intellectual disability.
Hum Genet
; 136(7): 821-834, 2017 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-28393272
12.
Neonatal nonepileptic myoclonus is a prominent clinical feature of KCNQ2 gain-of-function variants R201C and R201H.
Epilepsia
; 58(3): 436-445, 2017 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-28139826
13.
A comparison of five point-of-care ultrasound devices for use in ophthalmology and facial aesthetics.
Ultrasound
; 32(1): 28-35, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-38314019
14.
Unrecognized Focal Nonmotor Seizures in Adolescents Presenting to Emergency Departments.
Neurology
; 102(10): e209389, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38691824
15.
Prevalence of Suicidality in Adolescents With Newly Diagnosed Focal Epilepsy at Diagnosis and Over the Following 36 Months.
Neurology
; 103(1): e209397, 2024 Jul 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-38833656
16.
TDP-43 impairs sleep in Drosophila through Ataxin-2-dependent metabolic disturbance.
Sci Adv
; 10(2): eadj4457, 2024 Jan 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-38198547
17.
Plural molecular and cellular mechanisms of pore domain KCNQ2 encephalopathy.
bioRxiv
; 2024 Feb 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-38260608
18.
Brain-wide neuronal circuit connectome of human glioblastoma.
bioRxiv
; 2024 Mar 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38496540
19.
The epilepsy phenome/genome project.
Clin Trials
; 10(4): 568-86, 2013 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-23818435
20.
Safety of medications for hereditary angioedema during pregnancy and lactation.
Expert Opin Drug Saf
; 22(1): 17-24, 2023 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-36744397