Detalhe da pesquisa
1.
Human CLP1 mutations alter tRNA biogenesis, affecting both peripheral and central nervous system function.
Cell
; 157(3): 636-50, 2014 Apr 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-24766809
2.
High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population.
Am J Hum Genet
; 108(10): 1981-2005, 2021 10 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34582790
3.
The Genomics of Arthrogryposis, a Complex Trait: Candidate Genes and Further Evidence for Oligogenic Inheritance.
Am J Hum Genet
; 105(1): 132-150, 2019 07 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31230720
4.
Bi-allelic CCDC47 Variants Cause a Disorder Characterized by Woolly Hair, Liver Dysfunction, Dysmorphic Features, and Global Developmental Delay.
Am J Hum Genet
; 103(5): 794-807, 2018 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30401460
5.
Acute Mercury Poisoning in a Group of School Children.
Pediatr Emerg Care
; 35(10): 696-699, 2019 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-27977534
6.
Phenotypic expansion illuminates multilocus pathogenic variation.
Genet Med
; 20(12): 1528-1537, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-29790871
7.
Neuroinfluenza: evaluation of seasonal influenza associated severe neurological complications in children (a multicenter study).
Childs Nerv Syst
; 34(2): 335-347, 2018 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-28762041
8.
Idiopathic Unilateral Paralysis of the Palate in a Youth.
Pediatr Emerg Care
; 34(6): e104-e105, 2018 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-28072665
9.
Ecthyma gangrenosum in an infant after liver transplantation.
Pediatr Int
; 58(9): 950-2, 2016 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-27682614
10.
Frequency of coeliac disease in children with breath-holding spells.
J Paediatr Child Health
; 50(11): 916-9, 2014 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-24923596
11.
Biallelic variation in the choline and ethanolamine transporter FLVCR1 underlies a pleiotropic disease spectrum from adult neurodegeneration to severe developmental disorders.
medRxiv
; 2024 Feb 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-38405817
12.
Neurobrucellosis developing unilateral oculomotor nerve paralysis.
Am J Emerg Med
; 30(9): 2085.e5-7, 2012 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-22244219
13.
An L-2-Hydroxyglutaric Aciduria Case Presented With Acute Bacterial Meningitis.
Pediatr Emerg Care
; 33(2): e1, 2017 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-28141777
14.
Botulinum Toxin Type A for the Treatment of Limb Myokymia: Experiences of Three Children.
Ann Indian Acad Neurol
; 25(5): 928-930, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36561037
15.
Evaluation of hair structural abnormalities in children with different neurological diseases.
Turk J Pediatr
; 64(6): 1086-1105, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36583891
16.
Neurodevelopmental disorder with microcephaly, ataxia, and seizures syndrome: expansion of the clinical spectrum.
Clin Dysmorphol
; 31(4): 167-173, 2022 Oct 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36004946
17.
Developmental genomics of limb malformations: Allelic series in association with gene dosage effects contribute to the clinical variability.
HGG Adv
; 3(4): 100132, 2022 Oct 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-36035248
18.
Dorsal midbrain syndrome in two cases with two different presentations.
Childs Nerv Syst
; 32(12): 2283-2284, 2016 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-27638719
19.
Influenza A (H1N1) Infection Associated Acute Necrotizing Encephalopathy in a Child With Periodic Lateralized Epileptiform Discharges.
Pediatr Emerg Care
; 32(12): e14-e15, 2016 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-27898637
20.
Restless legs syndrome and headache cause sleepiness and consequent poor school performance: a community based study from Turkey.
Minerva Pediatr (Torino)
; 2021 Jun 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-34152113