Uzm. Dr. Taner Karakaya

Targeted gene panel testing in pediatric epilepsy: Diagnostic outcomes and expanding genetic insights

Brain and Development, 2026

DOI 10.1016/j.braindev.2025.104498 PMID 41518736 2 Zitationen (OpenAlex) Quelle: OpenAlex

Kisspeptin levels in infertile and miscarried women: a cross-sectional study on the relationship with methylenetetrahydrofolate reductase gene polymorphisms and biochemical parameters

Revista da Associacao Medica Brasileira (1992), 2025

DOI 10.1590/1806-9282.20250716 PMID 41124561 Frei zugänglicher VolltextQuelle: Europe PMC

Utility of Optical Genome Mapping in Repeat Disorders

Clinical genetics, 2025

DOI 10.1111/cge.14633 PMID 39435674 4 Zitationen (Europe PMC) Quelle: Europe PMC

Evaluation of Full Blood Count–Derived Inflammatory Indices (SII, SIRI, PIV, NLR) in Behçet’s Disease Patients and Healthy Controls

OBM Genetics, 2025

DOI 10.21926/obm.genet.2504318 6 Zitationen (OpenAlex) Frei zugänglicher VolltextQuelle: OpenAlex

The Distribution of Hereditary Risk Factors in Patients with Pulmonary Thromboembolism without Identifiable Acquired Risk Factors

Düzce Tıp Fakültesi Dergisi, 2025

DOI 10.18678/dtfd.1583292 2 Zitationen (OpenAlex) Frei zugänglicher VolltextQuelle: OpenAlex

The frequency of JAK2 V617F mutation and its association with low EPO levels in polycythemia vera patients

Scandinavian Journal of Clinical and Laboratory Investigation, 2025

DOI 10.1080/00365513.2025.2502945 PMID 40337844 1 Zitation (OpenAlex) Quelle: OpenAlex

Featured Cover

Clinical Genetics, 2025

DOI 10.1111/cge.14700 Frei zugänglicher VolltextQuelle: OpenAlex

Ligneous periodontitis: A molecularly confirmed case of type I plasminogen deficiency

Journal of Clinical and Experimental Dentistry, 2025

DOI 10.4317/jced.62773 PMID 40621135 Frei zugänglicher VolltextQuelle: OpenAlex

Identification of the molecular etiology in rare congenital hemolytic anemias using next‐generation sequencing with exome‐based copy number variant analysis

European Journal Of Haematology, 2024

DOI 10.1111/ejh.14194 PMID 38556258 3 Zitationen (Europe PMC) Frei zugänglicher VolltextQuelle: OpenAlex

SYSTEMIC IMMUNE INFLAMMATION INDEX AND PAN-IMMUNE INFLAMMATION VALUE IN PREDICTING HUMAN LEUKOCYTE ANTIGEN-B27 POSITIVITY: A STUDY ON ANKYLOSING SPONDYLITIS PATIENTS

Meandros Medical And Dental Journal, 2024

DOI 10.69601/meandrosmdj.1542434 2 Zitationen (OpenAlex) Frei zugänglicher VolltextQuelle: OpenAlex

The genetic spectrum of polycystic kidney disease in children

Revista da Associacao Medica Brasileira (1992), 2023

DOI 10.1590/1806-9282.20230334 PMID 37909612 1 Zitation (Europe PMC) Frei zugänglicher VolltextQuelle: Europe PMC

The New Youngest Case of Grange Syndrome with a Novel Biallelic Pathogenic Variant in YY1AP1

Molecular Syndromology, 2023

DOI 10.1159/000527785 PMID 37323195 5 Zitationen (OpenAlex) Frei zugänglicher VolltextQuelle: OpenAlex

Molecular profiling of BRCA1 and BRCA2 genes in Turkish patients with early-onset breast cancer

Egyptian Journal of Medical Human Genetics, 2023

DOI 10.1186/s43042-023-00442-w Frei zugänglicher VolltextQuelle: OpenAlex

Molecular characterization of Turkish patients with demyelinating Charcot-Marie-Tooth disease

Neurogenetics, 2022

DOI 10.1007/s10048-022-00693-6 PMID 35562614 6 Zitationen (Europe PMC) Quelle: Europe PMC

A New Mutation, Hb A2-Canakkale [δ10(A7)Ala→Val; HBD: c.32C>T], and Other Well-Known δ Variants Identified in a Selected Cohort with Low Hb A2 Levels

Hemoglobin, 2022

DOI 10.1080/03630269.2022.2083968 PMID 35930292 2 Zitationen (Europe PMC) Quelle: Europe PMC

Whole-exome sequencing reveals new potential genes and variants in patients with premature ovarian insufficiency

Journal of Assisted Reproduction and Genetics, 2022

DOI 10.1007/s10815-022-02408-0 PMID 35066699 17 Zitationen (OpenAlex) Frei zugänglicher VolltextQuelle: OpenAlex

Two siblings with GAPO syndrome: a novel missense variant in ANTXR1

Clinical Dysmorphology, 2022

DOI 10.1097/mcd.0000000000000430 PMID 36094357 2 Zitationen (OpenAlex) Quelle: OpenAlex

Copy number variations in patients with idiopathic recurrent pregnancy loss: an arrayCGH approach

TURKISH JOURNAL OF MEDICAL SCIENCES, 2022

DOI 10.55730/1300-0144.5511 PMID 36422498 2 Zitationen (OpenAlex) Frei zugänglicher VolltextQuelle: OpenAlex

Identification of a novel pathogenic variant in CKAP2L and literature review in a child with Filippi syndrome and congenital talipes equinovarus

American journal of medical genetics. Part A, 2021

DOI 10.1002/ajmg.a.62223 PMID 33913579 8 Zitationen (Europe PMC) Quelle: Europe PMC

Kabızlık ve Üfürümle Tespit Edilen Williams-Beuren Sendromu

Yüksek İhtisas Üniversitesi Sağlık Bilimleri Dergisi, 2021

DOI 10.51261/yiu.2021.00031 Frei zugänglicher VolltextQuelle: OpenAlex

Tedaviyi Etkileyen Tarama Testleri

Çanakkale Onsekiz Mart University AVESIS, 2020

12 Zitationen (OpenAlex) Quelle: OpenAlex

A Rare Chromosomal Aneuploidy That Diagnosed With Array CGH And MLPA Validation : Trisomy 4 in a fetus

Çanakkale Onsekiz Mart University AVESIS, 2020

Quelle: OpenAlex

HbF veya HbA2 seviyelerinde farklılığı bulunan bireylerde Kruppel-like factor 1 (KLF1) ve Hemoglobin subunit delta (HBD) genlerinde saptanan mutasyonların genotip-fenotip ilişkisinin incelenmesi

Çanakkale Onsekiz Mart University AVESIS, 2020

Quelle: OpenAlex

Tekrarlayan Gebelik Kaybı olan olguların kopya sayısı değişikliklerinin profillemesi

Çanakkale Onsekiz Mart University AVESIS, 2020

Quelle: OpenAlex

A novel variant for SQSTM1 gene in a patient with frontotemporal dementia.

Çanakkale Onsekiz Mart University AVESIS, 2020

Quelle: OpenAlex

A rare heterochromatin polymorphism of chromosome 6 associated with recurrent miscarriage: A case report

Çanakkale Onsekiz Mart University AVESIS, 2019

Quelle: OpenAlex

The clinical, cytogenetics and molecular characterization of inverted duplication/deletion of chromosome 8p in a boy with mental and motor retardation: Genotype-phenotype correlation in a case report

Egyptian Journal of Medical Human Genetics, 2018

DOI 10.1016/j.ejmhg.2018.04.001 1 Zitation (OpenAlex) Frei zugänglicher VolltextQuelle: OpenAlex

Distal trisomy 3q and distal monosomy 11q in a mother and child with neurodevelopmental delay, short stature, facial dysmorphism and digital malformations

Journal of Biotechnology, 2018

DOI 10.1016/j.jbiotec.2018.06.215 Quelle: OpenAlex

Frameshift mutation in N-acetyl-glutamate synthase (NAGS) gene in a consanguineous family: three deceased cases before diagnosis

Journal of Biotechnology, 2018

DOI 10.1016/j.jbiotec.2018.06.214 Quelle: OpenAlex

A case with 10q22.3q23.2 microdeletion syndrome and mosaic Klinefelter syndrome

Journal of Biotechnology, 2018

DOI 10.1016/j.jbiotec.2018.06.210 Quelle: OpenAlex

Loss of heterozygosity (LOH) of the TBX18 and MRAP2 genes in a case with unilateral renal agenesis and central obesity

Çanakkale Onsekiz Mart University AVESIS, 2018

Quelle: OpenAlex

Çanakkale popülasyonunda HBB(Hemoglobin Subunit Beta) geni mutasyon profilleri

Çanakkale Onsekiz Mart University AVESIS, 2018

Quelle: OpenAlex

A mosaic infertile case of isodicentricY-chromosome with duplicated SRY, SHOX and deleted AZF locus

Biomedical Genetics and Genomics, 2017

DOI 10.15761/bgg.1000125 Frei zugänglicher VolltextQuelle: OpenAlex

Two candidate genes for recurrent pregnancy loss and infertility: Could ZP3 and UPK3B give us new diagnostic and therapeutic approach?

Biodiscovery, 2017

DOI 10.3897/biodiscovery.20.e20113 Frei zugänglicher VolltextQuelle: OpenAlex

The microdeletion of 15q11.2 locus encompassing TUBGCP5, NIPA1, NIPA2 , and CYFIP1 genes in an epileptic case with macrocephaly, attention-deficit/hyperactivity disorder (ADHD), speech and motor delay

Journal of Biotechnology, 2017

DOI 10.1016/j.jbiotec.2017.06.1068 Quelle: OpenAlex

A mental and motor retarded case with derivative chromosome 8p rearrangements: Genotype–phenotype correlation in a case report

Journal of Biotechnology, 2017

DOI 10.1016/j.jbiotec.2017.06.1069 Quelle: OpenAlex

A balanced non-reciprocal translocated case with recurrent abortions: The importance and validity of conventional cytogenetics analysis in balanced translocations detection when comparing to the MicroArray-CGH technique

Journal of Biotechnology, 2017

DOI 10.1016/j.jbiotec.2017.06.1070 Quelle: OpenAlex

Clinical and molecular characterization of SLC7A gene that located in 14q11.2 locus in a seconder infertile rare case with lysinuric protein intolerance

Journal of Biotechnology, 2017

DOI 10.1016/j.jbiotec.2017.06.1067 Quelle: OpenAlex

The GJB2 gene mutation profiles in hearing ımpaired patients from Western Turkey, Canakkale

Biomedical Genetics and Genomics, 2017

DOI 10.15761/bgg.1000130 Frei zugänglicher VolltextQuelle: OpenAlex

Fatma Sılan, Duygu Kankaya, Taner Karakaya, Baris Paksoy, Volkan Turunz and Ozturk Ozdemir.The GJB2 gene mutation profiles in hearing ımpaired patients from Western Turkey, Canakkale.

Çanakkale Onsekiz Mart University AVESIS, 2017

Quelle: OpenAlex