Detalhe da pesquisa
1.
Genetic testing and counseling challenges in personalized breast cancer care: review article with insights from Türkiye.
Future Oncol
; 20(15): 1031-1045, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38014519
2.
Beyond traditional therapies: clinical significance of complex molecular profiling in patients with advanced solid tumours-results from a Turkish multi-centre study.
Jpn J Clin Oncol
; 54(5): 562-568, 2024 May 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-38271177
3.
Immunodeficiency associated with a novel functionally defective variant of SLC19A1 benefits from folinic acid treatment.
Genes Immun
; 24(1): 12-20, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36517554
4.
Bi-allelic JAM2 Variants Lead to Early-Onset Recessive Primary Familial Brain Calcification.
Am J Hum Genet
; 106(3): 412-421, 2020 03 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32142645
5.
Contribution of genotypes in Prothrombin and Factor V Leiden to COVID-19 and disease severity in patients at high risk for hereditary thrombophilia.
J Med Virol
; 95(2): e28457, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36597901
6.
Ethylmalonic Encephalopathy: a literature review and two new cases of mild phenotype.
Neurol Sci
; 44(11): 3827-3852, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-37458841
7.
Generation of a Beta-Cell Transplant Animal Model of Diabetes Using CRISPR Technology.
Adv Exp Med Biol
; 1409: 145-159, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-36289162
8.
Aceruloplasminemia presenting with microcytic anemia in a Turkish boy due to a novel pathogenic variant.
Pediatr Hematol Oncol
; 40(7): 673-681, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-36308763
9.
An Updated Review on the Role of Nanoformulated Phytochemicals in Colorectal Cancer.
Medicina (Kaunas)
; 59(4)2023 Mar 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-37109643
10.
Neurological comorbidities and novel mutations in Turkish cases with neurofibromatosis type 1.
Ideggyogy Sz
; 76(7-8): 270-274, 2023 07 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-37471196
11.
Clinical and molecular evaluation of MEFV gene variants in the Turkish population: a study by the National Genetics Consortium.
Funct Integr Genomics
; 22(3): 291-315, 2022 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-35098403
12.
Analysis of ACE2 and TMPRSS2 coding variants as a risk factor for SARS-CoV-2 from 946 whole-exome sequencing data in the Turkish population.
J Med Virol
; 94(11): 5225-5243, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-35811452
13.
A Novel Intronic Mutation Reduces HAX1 Level and is Associated With Severe Congenital Neutropenia.
J Pediatr Hematol Oncol
; 44(1): e62-e67, 2022 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33560082
14.
Altered expression of apoptosis-related, circulating cell-free miRNAs in children with familial Mediterranean fever: a cross-sectional study.
Rheumatol Int
; 41(1): 103-111, 2021 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-32140884
15.
Experience of Autoimmune and autoinflammatory diseases in a Turkish pediatric cohort with primary immunodeficiencies.
Allergol Immunopathol (Madr)
; 49(6): 1-7, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34761650
16.
The cumulative effects of MEFV gene polymorphisms and mutations in patients with inflammatory bowel diseases.
J Pak Med Assoc
; 71(2(A)): 479-483, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33819232
17.
Evaluation of the results of patients who applied to the Çukurova University, Medical Genetics Department for prenatal diagnosis and determination of genetic counseling principles
Turk J Med Sci
; 51(2): 657-660, 2021 04 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-33197157
18.
Clinical findings and mutational spectrum of neurofibromatosis type 1 patients in a single center of south part of Turkey.
Turk J Med Sci
; 2021 Aug 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-34392670
19.
Serum lubricin levels in patients with juvenile idiopathic arthritis.
Reumatologia
; 59(6): 373-377, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-35079181
20.
Evaluation of phenotypic and genotypic features of children with distal kidney tubular acidosis.
Pediatr Nephrol
; 35(12): 2297-2306, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32613277