Detalhe da pesquisa
1.
NDE1-related disorders: A recurrent NDE1 pathogenic variant causing Lissencephaly 4 can also be associated with microhydranencephaly.
Am J Med Genet A
; 188(1): 326-331, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34562061
2.
An Anomaly with Potential as a New Prognostic Marker in CLL with del(13q): Gain of 16p13.3.
Cytogenet Genome Res
; 161(10-11): 479-487, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34915466
3.
A Turkish patient with novel AHCY variants and presumed diagnosis of S-adenosylhomocysteine hydrolase deficiency.
Am J Med Genet A
; 182(4): 740-745, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31957987
4.
The impact of klotho gene polymorphisms on urinary tract stone disease.
World J Urol
; 34(7): 1045-50, 2016 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-26597587
5.
Investigation of key miRNAs and target genes in bladder cancer using miRNA profiling and bioinformatic tools.
Mol Biol Rep
; 41(12): 8127-35, 2014 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-25189652
6.
Early-onset Chronic Keratitis as the First Presenting Component of Autoimmune Polyendocrinopathy Syndrome Type 1 (APS-1): A Case Report and Review of the Literature.
J Clin Res Pediatr Endocrinol
; 2023 Dec 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-38084036
7.
Genetic Polymorphism on Chromosome 4q25 (rs17570669) May Predict Recurrence After Successful Electrical Cardioversion in Patients with Persistent Atrial Fibrillation.
Turk Kardiyol Dern Ars
; 51(8): 550-556, 2023 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-38164777
8.
Screening of Mutations in Maturity-onset Diabetes of the Young-related Genes and RFX6 in Children with Autoantibody-negative Type 1 Diabetes Mellitus.
J Clin Res Pediatr Endocrinol
; 2023 Dec 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-38054414
9.
Genetic Investigations in Turkish Idiopathic Pancreatitis Patients Show Unique Characteristics.
Turk J Gastroenterol
; 34(12): 1240-1248, 2023 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-37823318
10.
Conventional and molecular cytogenetic analyses in Turkish patients with multiple myeloma.
Turk J Haematol
; 29(2): 135-42, 2012 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-24744644
11.
Spectrum of PAH gene mutations and genotype-phenotype correlation in patients with phenylalanine hydroxylase deficiency from Turkey.
J Pediatr Endocrinol Metab
; 35(5): 639-647, 2022 May 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-35355500
12.
The Impact of Cytogenetic Aberrations in the Clonal Evolution of Chronic Myeloid Leukemia: A Single-Center Experience Among 450 Turkish Patients (Cohort Study)
Turk J Haematol
; 39(4): 237-244, 2022 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36199265
13.
IL-15 Gene Polymorphism in Celiac Disease Patients and Their Siblings.
Turk J Gastroenterol
; 32(4): 349-356, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34231481
14.
Association of eleven single nucleotide polymorphisms with refractive disorders from Eskisehir, Turkey.
Int J Ophthalmol
; 14(6): 812-817, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34150535
15.
A pediatric BAL case with double Ph chromosomes and trisomy 5.
Cancer Genet
; 258-259: 7-9, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34225100
16.
A new four-way complex translocation variant involving the t(8;5;21;4)(q21;q13,q22,q31) and the relocalization of AML1/ETO fusion gene.
Cancer Genet
; 256-257: 1-4, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33773407
17.
The relationship of retinopathy of prematurity with brain-derivated neurotrophic factor, vascular endotelial growth factor-A, endothelial PAD domain protein 1 and nitric oxide synthase 3 gene polymorphisms.
Ophthalmic Genet
; 42(6): 725-731, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34346275
18.
Genetic variants associated with atrial fibrillationand long-term recurrence after catheter ablation for atrialfibrillation in Turkish patients.
Anatol J Cardiol
; 25(2): 129-138, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33583820
19.
Frequency of frontotemporal dementia-related gene variants in Turkey.
Neurobiol Aging
; 106: 332.e1-332.e11, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34162492
20.
Which prognostic marker is responsible for the clinical heterogeneity in CLL with 13q deletion?
Mol Cytogenet
; 14(1): 2, 2021 Jan 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33407772