Search details
1.
Impaired Amino Acid Transport at the Blood Brain Barrier Is a Cause of Autism Spectrum Disorder.
Cell
; 167(6): 1481-1494.e18, 2016 Dec 01.
Article
in English
| MEDLINE | ID: mdl-27912058
2.
Evaluation of the Patients with the Diagnosis of Pontocerebellar Hypoplasia: A Multicenter National Study.
Cerebellum
; 2024 Apr 15.
Article
in English
| MEDLINE | ID: mdl-38622473
3.
Long-term effects of vagus nerve stimulation in refractory pediatric epilepsy: A single-center experience.
Epilepsy Behav
; 110: 107147, 2020 09.
Article
in English
| MEDLINE | ID: mdl-32604021
4.
International consensus classification of hippocampal sclerosis and etiologic diversity in children with temporal lobectomy.
Epilepsy Behav
; 112: 107380, 2020 11.
Article
in English
| MEDLINE | ID: mdl-32882628
5.
The experience of allogeneic hematopoietic stem cell transplantation in a patient with X-linked adrenoleukodystrophy.
Transfus Apher Sci
; 59(1): 102583, 2020 Feb.
Article
in English
| MEDLINE | ID: mdl-31350055
6.
Mosaic MECP2 variants in males with classical Rett syndrome features, including stereotypical hand movements.
Clin Genet
; 95(3): 403-408, 2019 03.
Article
in English
| MEDLINE | ID: mdl-30417326
7.
Expanding the phenotype of phospholipid remodelling disease due to MBOAT7 gene defect.
J Inherit Metab Dis
; 42(2): 381-388, 2019 03.
Article
in English
| MEDLINE | ID: mdl-30701556
8.
Mutations in CSPP1 cause primary cilia abnormalities and Joubert syndrome with or without Jeune asphyxiating thoracic dystrophy.
Am J Hum Genet
; 94(1): 62-72, 2014 Jan 02.
Article
in English
| MEDLINE | ID: mdl-24360808
9.
Somatic mutations in cerebral cortical malformations.
N Engl J Med
; 371(8): 733-43, 2014 Aug 21.
Article
in English
| MEDLINE | ID: mdl-25140959
10.
Niemann-Pick disease type C in the newborn period: a single-center experience.
Eur J Pediatr
; 176(12): 1669-1676, 2017 Dec.
Article
in English
| MEDLINE | ID: mdl-28951965
11.
Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations.
Nature
; 467(7312): 207-10, 2010 Sep 09.
Article
in English
| MEDLINE | ID: mdl-20729831
12.
Prenatal enzymatic diagnosis of lysosomal storage diseases using cultured amniotic cells, uncultured chorionic villus samples, and fetal blood cells: Hacettepe experience.
Prenat Diagn
; 39(12): 1080-1085, 2019 11.
Article
in English
| MEDLINE | ID: mdl-31411753
13.
Electro-clinical features and long-term outcomes in guanidinoacetate methyltransferase (GAMT) deficiency.
Eur J Paediatr Neurol
; 49: 66-72, 2024 Mar.
Article
in English
| MEDLINE | ID: mdl-38394710
14.
Sepiapterin Reductase Deficiency Misdiagnosed as Neurological Sequelae of Meningitis.
Mol Syndromol
; 15(2): 130-135, 2024 Mar.
Article
in English
| MEDLINE | ID: mdl-38585541
15.
Health-related quality of life in adolescents with psychogenic nonepileptic seizures.
Epilepsy Behav
; 29(3): 516-20, 2013 Dec.
Article
in English
| MEDLINE | ID: mdl-24126028
16.
Novel mutations consolidate KCTD7 as a progressive myoclonus epilepsy gene.
J Med Genet
; 49(6): 391-9, 2012 Jun.
Article
in English
| MEDLINE | ID: mdl-22693283
17.
Abnormal cerebellar development and axonal decussation due to mutations in AHI1 in Joubert syndrome.
Nat Genet
; 36(9): 1008-13, 2004 Sep.
Article
in English
| MEDLINE | ID: mdl-15322546
18.
Mutations in ARFGEF2 implicate vesicle trafficking in neural progenitor proliferation and migration in the human cerebral cortex.
Nat Genet
; 36(1): 69-76, 2004 Jan.
Article
in English
| MEDLINE | ID: mdl-14647276
19.
Non-epileptic paroxysmal events at pediatric video-electroencephalography monitoring unit over a 15-year period.
Seizure
; 108: 89-95, 2023 May.
Article
in English
| MEDLINE | ID: mdl-37119582
20.
Treatment of a severe conversion disorder in a 10-year-old boy: a case study and overview.
Turk J Pediatr
; 54(4): 413-8, 2012.
Article
in English
| MEDLINE | ID: mdl-23692724