Detalhe da pesquisa
1.
Association between fetal fraction of cell-free DNA and adverse pregnancy outcomes.
Arch Gynecol Obstet
; 2024 Mar 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-38441603
2.
Neuronal ceroid lipofuscinosis: genetic and phenotypic spectrum of 14 patients from Turkey.
Neurol Sci
; 42(3): 1103-1111, 2021 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-33486620
3.
Can fetal fractions in the cell-free DNA test predict the onset of fetal growth restriction?
J Perinat Med
; 2020 Apr 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-32242833
4.
A case of spastic paraplegia-15 with a novel pathogenic variant in ZFYVE26 gene.
Int J Neurosci
; 129(12): 1198-1202, 2019 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-31385551
5.
Somatosensory reflex seizures in a child with epilepsy related to novel SCN1A mutation.
Childs Nerv Syst
; 33(4): 677-680, 2017 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-27889818
6.
The phenotypic and molecular genetic spectrum of Alström syndrome in 44 Turkish kindreds and a literature review of Alström syndrome in Turkey.
J Hum Genet
; 60(1): 1-9, 2015 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-25296579
7.
JAKCalc: A machine-learning approach to rationalized JAK2 testing in patients with elevated hemoglobin levels.
Medicine (Baltimore)
; 103(14): e37751, 2024 Apr 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-38579024
8.
Prognostic and predictive role of liquid biopsy in lung cancer patients.
Front Oncol
; 13: 1275525, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-38304031
9.
Gilbert Syndrome and Genetic Findings in Children: A Tertiary-Center Experience from Turkey.
Turk Arch Pediatr
; 57(3): 295-299, 2022 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-35781232
10.
The utility of next-generation sequencing technologies in diagnosis of Mendelian mitochondrial diseases and reflections on clinical spectrum.
J Pediatr Endocrinol Metab
; 34(4): 417-430, 2021 Apr 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-33629572
11.
The relation between distant metastasis and genetic change type in stage IV lung adenocarcinoma patients at diagnosis.
Clin Respir J
; 15(2): 196-202, 2021 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-32981210
12.
The phenotypic and molecular genetic spectrum of Alström syndrome in 44 Turkish kindreds and a literature review of Alström syndrome in Turkey.
J Hum Genet
; 60(1): 51, 2015 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-25619591
13.
Topiramate-Responsive Tremor in a Novel Pathogenic Variant of SPG15 Patient.
Clin Neuropharmacol
; 43(4): 121-122, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32501858
14.
Evaluation of chromosomal abnormalities and Y-chromosome microdeletions in 1696 Turkish cases with primary male infertility: A single-center study.
Turk J Urol
; 46(2): 95-100, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32125967
15.
SURF1 related Leigh syndrome: Clinical and molecular findings of 16 patients from Turkey.
Mol Genet Metab Rep
; 25: 100657, 2020 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-33134083
16.
Targeted Next-Generation Sequencing of MLH1, MSH2, and MSH6 Genes in Patients with Endometrial Carcinoma under 50 Years of Age
Balkan Med J
; 36(1): 37-42, 2019 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30238922
17.
The clinical and molecular features of three Turkish patients with a rare genetic disorder: 2q37 deletion syndrome.
Turk J Pediatr
; 61(4): 589-593, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31990478
18.
A novel thyroid hormone receptor alpha gene mutation, clinic characteristics, and follow-up findings in a patient with thyroid hormone resistance.
Hormones (Athens)
; 18(2): 223-227, 2019 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-30747412
19.
First-Line Molecular Genetic Evaluation of Autosomal Recessive Non-Syndromic Hearing Loss.
Turk Arch Otorhinolaryngol
; 57(3): 140-148, 2019 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-31620696
20.
cfDNA in exhaled breath condensate (EBC) and contamination by ambient air: toward volatile biopsies.
J Breath Res
; 13(3): 036006, 2019 05 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30970343