Detalhe da pesquisa
1.
Bi-allelic variants in the ESAM tight-junction gene cause a neurodevelopmental disorder associated with fetal intracranial hemorrhage.
Am J Hum Genet
; 110(4): 681-690, 2023 04 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36996813
2.
Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss.
Am J Hum Genet
; 108(10): 2006-2016, 2021 10 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34626583
3.
What is the safe observation period for seizure recurrence in pediatric emergency departments?
Epilepsy Behav
; 139: 109049, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36603346
4.
Blood neurofilament light chain and thrombospondin-1 levels of patients with autism spectrum disorder.
Turk J Med Sci
; 52(4): 1041-1049, 2022 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-36326357
5.
The Complex Genetic Landscape of Hereditary Ataxias in Turkey and Implications in Clinical Practice.
Mov Disord
; 36(7): 1676-1688, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33624863
6.
Clinical predictors of drug-resistant epilepsy in children
Turk J Med Sci
; 51(3): 1249-1252, 2021 06 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-33600098
7.
Herpes simplex virus-1 as a rare etiology of isolated acute cerebellitis: case report and literature review.
J Neurovirol
; 26(2): 270-272, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31515702
8.
A novel mutation in the glycine decarboxylase gene in patient with non-ketotic hyperglycinemia.
Neurosciences (Riyadh)
; 22(2): 131-133, 2017 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-28416785
9.
A Drug Reaction With Eosinophilia and Systemic Symptoms Syndrome Associated With Clobazam.
Pediatr Emerg Care
; 36(3): e175, 2020 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-30870346
10.
Assessment of neuropsychological late effects in survivors of childhood leukemia.
Pediatr Hematol Oncol
; 31(2): 181-93, 2014 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-24088177
11.
Acute cervical dystonia after the first dose of butamirate citrate.
Pediatr Emerg Care
; 29(1): 80-1, 2013 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-23283272
12.
Phrenic nerve palsy associated with brachial plexus avulsion in a pediatric patient with multitrauma.
Pediatr Emerg Care
; 29(8): 922-3, 2013 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-23925250
13.
Cefixime-induced oculogyric crisis.
Pediatr Emerg Care
; 28(1): 55-6, 2012 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-22217888
14.
VARS1 mutations associated with neurodevelopmental disorder are located on a short amino acid stretch of the anticodon-binding domain.
Turk J Biol
; 46(6): 458-464, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-37529793
15.
Novel insights into PORCN mutations, associated phenotypes and pathophysiological aspects.
Orphanet J Rare Dis
; 17(1): 29, 2022 01 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-35101074
16.
The effectiveness and tolerability of clobazam in the pediatric population: Adjunctive therapy and monotherapy in a large-cohort multicenter study.
Epilepsy Res
; 184: 106963, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35749975
17.
Biallelic Loss-of-Function NDUFA12 Variants Cause a Wide Phenotypic Spectrum from Leigh/Leigh-Like Syndrome to Isolated Optic Atrophy.
Mov Disord Clin Pract
; 9(2): 218-228, 2022 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-35141356
18.
Brain abscess caused by Lactococcus lactis cremoris in a child.
Eur J Pediatr
; 170(12): 1603-5, 2011 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-21953033
19.
A rare complication of intrathecal methotrexate in a child with acute lymphoblastic leukemia.
Pediatr Hematol Oncol
; 28(6): 517-22, 2011 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-21699468
20.
Rare presentation of levamisole-induced leukoencephalopathy in a pediatric patient: seizure.
Turk J Pediatr
; 63(2): 319-322, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-33929123