NO |
AD |
YIL |
1 | Late onset Bartter syndrome: Bartter syndrome type 2 presenting with isolated nephrocalcinosis and h... | 2022 |
2 | Evaluation of hereditary/familial breast cancer patients with multigene targeted next generation seq... | 2022 |
3 | Selective bilateral vestibular neuropathy in a Turkish CMT1B family with a novel MPZ mutation... | 2021 |
4 | The relation between distant metastasis and genetic change type in stage IV lung adenocarcinoma pati... | 2020 |
5 | Could high levels of cell-free DNA in maternal blood be associated with maternal health and perinata... | 2020 |
6 | Warburg Micro Syndrome 1 due to Segmental Paternal Uniparental Isodisomy of Chromosome 2 Detected by... | 2020 |
7 | Can fetal fractions in the cell-free DNA test predict the onset of fetal growth restriction?... | 2020 |
8 | Evaluation of chromosomal abnormalities and Y-chromosome microdeletions in 1696 Turkish cases with p... | 2019 |
9 | Spinal Muscular Atrophy Results and Comparison of Commonly Used Methods.... | 2019 |
10 | First-Line Molecular Genetic Evaluation of Autosomal Recessive Non-Syndromic Hearing Loss.... | 2019 |
11 | Initial Next-Generation Sequencing (NGS) Results of Alport Syndrome... | 2019 |
12 | Molecular genetic evaluation of NLRP3, MVK and TNFRSF1A associated periodic fever syndromes... | 2019 |
13 | A toddler with a novel LEPR mutation... | 2019 |
14 | The Efficiency of SNP-Based Microarrays in the Detection of Copy-Neutral Events at 15q11.2 and 11p15... | 2019 |
15 | Targeted fetal cell-free DNA screening for aneuploidies in 4,594 pregnancies: Single center study.... | 2019 |
16 | cfDNA in exhaled breath condensate (EBC) and contamination by ambient air: toward volatile biopsies... | 2019 |
17 | New Insight of Tumor Microenvironment in Non-Small Cell Lung Cancer... | 2019 |
18 | Targeted Next Generation Sequencing of MLH1, MSH2, and MSH6 Genes in Patients with Endometrial Carci... | 2019 |
19 | Targeted next generation sequencing in patients with maturity-onset diabetes of the young (MODY)... | 2018 |
20 | Fetal HLA-G Alleles and Their Effect on Miscarriage... | 2018 |
21 | An unusual cause of cavitating leukoencephalopathy: ethylmalonic encephalopathy.... | 2018 |
22 | Two Cases with Ring Chromosome 13 at either End of the Phenotypic Spectrum... | 2018 |
23 | Experiences in Microarray-based Evaluation of Developmental Disabilities and Congenital Anomalies.... | 2017 |
24 | QF-PCR in invasive prenatal diagnosis: a single-center experience in Turkey.... | 2017 |
25 | Determination of HER2 and p53 Mutations by Sequence Analysis Method and EGFR/Chromosome 7 Gene Statu... | 2015 |
26 | Chromosome abnormality incidence in fetuses with cerebral ventriculomegaly... | 2014 |
27 | Asn680ser polymorphism of the follicle-stimulating hormone receptor gene (FSHR) is not associated wi... | 2014 |
28 | Antenatal diagnosis of left atrial isomerism and heterotaxy syndrome in fetus with Meckel-Gruber syn... | 2014 |
29 | Chromosomal and structural anomalies in fetuses with open neural tube defects.... | 2014 |
30 | A case of dup(3q) syndrome. Genetic Counseling... | 2013 |
31 | Prenatal diagnosis of an autosomal translocation with regular trisomy 21.... | 2013 |
32 | New Phenotype with Generalized Platyspondyly, Large Mandible, Hypoplastic Teeth, Strabismus, Hyperop... | 2011 |
33 | The progeny of homozygous identical reciprocal translocation carrier mother.... | 2010 |
34 | The importance of systematic genetic approach to familial schizophrenia cases and discussion of cryp... | 2010 |
35 | The apolipoprotein E gene and Taq1A polymorphisms in childhood obesity.... | 2010 |
36 | Prenatal diagnosis of mosaic ring 22 duplication/deletion with terminal 22q13 deletion due to abnorm... | 2009 |
37 | Supernumerary marker chromosome 15 in a male with azoospermia and open bite deformity.... | 2009 |
38 | A novel mutation in the SLC19A2 gene in a Turkish female with thiamine-responsive megaloblastic anem... | 2009 |
39 | CTLA4 gene polymorphisms in children and adolescents with autoimmune thyroid diseases.... | 2008 |
40 | A case with bilateral radio-ulnar synostosis... | 2008 |
41 | An unexpected finding in a child with neurological problems: mosaic ring chromosome 18... | 2008 |
42 | A case with a ring chromosome 22... | 2008 |
43 | A boy with small supernumerary marker chromosome X identified by FISH.... | 2007 |
44 | A new case of hairy elbows syndrome (hypertrichosis cubiti)... | 2007 |