Detalhe da pesquisa
1.
Expanding the clinical and genetic landscape of (developmental) epileptic encephalopathy with spike-and-wave activation in sleep: results from studies of a Turkish cohort.
Neurogenetics
; 25(2): 119-130, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38388889
2.
Coexistence of longitudinally extensive transverse myelitis and diffuse midline glioma in the brainstem in an adolescent boy with acute flaccid paralysis.
Childs Nerv Syst
; 40(1): 227-232, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-37737897
3.
Identification of novel variants in Turkish families with non-syndromic congenital cataracts using whole-exome sequencing.
Int Ophthalmol
; 43(12): 4573-4583, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-37592116
4.
Evaluation of optical coherence tomography findings and visual evoked potentials in Charcot-Marie-Tooth disease.
Int Ophthalmol
; 43(1): 333-341, 2023 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-35953577
5.
Microstructural evaluation of the brain with advanced magnetic resonance imaging techniques in cases of electrical status epilepticus during sleep (ESES).
Turk J Med Sci
; 53(6): 1840-1851, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-38813507
6.
Novel LNPK variant causes progressive cerebral atrophy: Expanding the clinical phenotype.
Clin Genet
; 102(3): 218-222, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35599435
7.
Efficacy of intravenous levetiracetam versus phenytoin in convulsive status epilepticus and acute repetitive seizures in children.
Childs Nerv Syst
; 38(7): 1357-1364, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35501510
8.
Prediction of molecular phenotypes for novel SCN1A variants from a Turkish genetic epilepsy syndromes cohort and report of two new patients with recessive Dravet syndrome.
Clin Transl Sci
; 17(1): e13679, 2024 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37955180
9.
Assessment of the changing trends in maternal knowledge about management of fever and antibiotic use in the last decade in Türkiye.
Turk J Pediatr
; 65(2): 269-277, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37114692
10.
Calgary score and modified calgary score in the differential diagnosis between syncope and genetic generalized epilepsy in children.
Sci Rep
; 13(1): 12376, 2023 07 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-37524730
11.
A novel de novo TET3 loss-of-function variant in a Turkish boy presenting with neurodevelopmental delay and electrical status epilepticus during slow-wave sleep.
Brain Dev
; 45(2): 140-145, 2023 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-36192301
12.
Lunapark deficiency leads to an autosomal recessive neurodevelopmental phenotype with a degenerative course, epilepsy and distinct brain anomalies.
Brain Commun
; 5(5): fcad222, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37794925
13.
Two New Cases of Primary Microcephaly with Neuronal Migration Defect Caused by Truncating Mutations in the ASPM Gene.
Mol Syndromol
; 13(1): 56-63, 2022 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-35221876
14.
Evaluation of optical coherence tomography findings in adolescents with genetic generalized epilepsy.
Eur J Ophthalmol
; 32(6): 3650-3656, 2022 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-34657446
15.
Novel SH3PXD2B variant identified by whole-exome sequencing in a Turkish newborn with Frank-Ter Haar Syndrome.
Clin Dysmorphol
; 31(1): 45-49, 2022 Jan 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34538861