Detalhe da pesquisa
1.
POU3F3-related disorder: Defining the phenotype and expanding the molecular spectrum.
Clin Genet
; 104(2): 186-197, 2023 08.
Artigo
Inglês
| MEDLINE | ID: mdl-37165752
2.
Coexistence of severe developmental delay, epilepsy, and hemangioma in Snijders Blok-Fisher syndrome suggests the presence of a POU3F3-related SNIBFIS endophenotype: A case report.
Am J Med Genet A
; 185(5): 1554-1560, 2021 05.
Artigo
Inglês
| MEDLINE | ID: mdl-33645921
3.
Genotypes and estimated prevalence of phosphomannomutase 2 deficiency in Turkey differ significantly from those in Europe.
Am J Med Genet A
; 182(4): 705-712, 2020 04.
Artigo
Inglês
| MEDLINE | ID: mdl-31981409
4.
Clinical spectrum and genotype-phenotype associations of KCNA2-related encephalopathies.
Brain
; 140(9): 2337-2354, 2017 Sep 01.
Artigo
Inglês
| MEDLINE | ID: mdl-29050392
5.
Perinatal risk factors for asthma in children with allergic rhinitis and grass pollen sensitization.
Allergy Asthma Proc
; 39(3): 1-7, 2018 May 01.
Artigo
Inglês
| MEDLINE | ID: mdl-29669659
6.
Association of neck circumference and pulmonary function in children.
Ann Allergy Asthma Immunol
; 119(1): 27-30, 2017 07.
Artigo
Inglês
| MEDLINE | ID: mdl-28527867
7.
Association of wider neck circumference and asthma in obese children.
Ann Allergy Asthma Immunol
; 116(6): 514-7, 2016 06.
Artigo
Inglês
| MEDLINE | ID: mdl-27264564
8.
Association of nerve conduction impairment and insulin resistance in children with obesity.
Childs Nerv Syst
; 32(11): 2219-2224, 2016 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-27503137
9.
KIAA0586 is Mutated in Joubert Syndrome.
Hum Mutat
; 36(9): 831-5, 2015 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-26096313
10.
Wider neck circumference is related to severe asthma in children.
Pediatr Allergy Immunol
; 26(5): 456-60, 2015 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-25952270
11.
Brachydactyly mental retardation syndrome in differential diagnosis of pseudopseudohypoparathyroidism.
J Pediatr Endocrinol Metab
; 26(7-8): 793-5, 2013.
Artigo
Inglês
| MEDLINE | ID: mdl-23645122
12.
Transient Neonatal Diabetes Mellitus and Seizure with an Unknown Etiology.
J Pediatr Genet
; 12(3): 242-245, 2023 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-37575648
13.
Acquired epileptiform opercular syndrome: F-18 fluorodeoxyglucose positron emission tomography (FDG-PET) findings and efficacy of levetiracetam therapy.
Epilepsy Behav
; 25(1): 50-3, 2012 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-22980081
14.
Three Afghani siblings with a novel homozygous variant and further delineation of the clinical features of METTL5 related intellectual disability syndrome.
Turk J Pediatr
; 64(5): 956-963, 2022.
Artigo
Inglês
| MEDLINE | ID: mdl-36305450
15.
Clinical Heterogeneity in MT-ATP6 Pathogenic Variants: Same Genotype-Different Onset.
Cells
; 11(3)2022 01 30.
Artigo
Inglês
| MEDLINE | ID: mdl-35159298
16.
The relationship of motor development with sensory processing among infants born very preterm: a prospective case-control study.
Turk J Pediatr
; 63(5): 855-866, 2021.
Artigo
Inglês
| MEDLINE | ID: mdl-34738367
17.
Autosomal recessive spinocerebellar ataxia 18 caused by homozygous exon 14 duplication in GRID2 and review of the literature.
Acta Neurol Belg
; 121(6): 1457-1462, 2021 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-32170608
18.
A Rare Cause of Hyperinsulinemic Hypoglycemia: Kabuki Syndrome
J Clin Res Pediatr Endocrinol
; 13(4): 452-455, 2021 11 25.
Artigo
Inglês
| MEDLINE | ID: mdl-32830475
19.
A rare complication of wasp sting: acute cervical dystonia.
Childs Nerv Syst
; 31(12): 2213-4, 2015 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-26499128
20.
Neuromotor and sensory development in preterm infants: prospective study.
Turk Pediatri Ars
; 55(1): 46-53, 2020.
Artigo
Inglês
| MEDLINE | ID: mdl-32231449