Bilimsel çalışmalar

Uzm. Dr. Taner Karakaya

40 yayın. Her yayının yanında bilginin kaynağı yazar.

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  1. 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 atıf (OpenAlex) Kaynak: OpenAlex

  2. 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 Açık erişimli tam metinKaynak: Europe PMC

  3. Utility of Optical Genome Mapping in Repeat Disorders

    Clinical genetics, 2025

    DOI 10.1111/cge.14633 PMID 39435674 4 atıf (Europe PMC) Kaynak: Europe PMC

  4. 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 atıf (OpenAlex) Açık erişimli tam metinKaynak: OpenAlex

  5. 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 atıf (OpenAlex) Açık erişimli tam metinKaynak: OpenAlex

  6. 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 atıf (OpenAlex) Kaynak: OpenAlex

  7. Featured Cover

    Clinical Genetics, 2025

    DOI 10.1111/cge.14700 Açık erişimli tam metinKaynak: OpenAlex

  8. 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 Açık erişimli tam metinKaynak: OpenAlex

  9. 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 atıf (Europe PMC) Açık erişimli tam metinKaynak: OpenAlex

  10. 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 atıf (OpenAlex) Açık erişimli tam metinKaynak: OpenAlex

  11. 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 atıf (Europe PMC) Açık erişimli tam metinKaynak: Europe PMC

  12. 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 atıf (OpenAlex) Açık erişimli tam metinKaynak: OpenAlex

  13. 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 Açık erişimli tam metinKaynak: OpenAlex

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

    Neurogenetics, 2022

    DOI 10.1007/s10048-022-00693-6 PMID 35562614 6 atıf (Europe PMC) Kaynak: Europe PMC

  15. 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 atıf (Europe PMC) Kaynak: Europe PMC

  16. 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 atıf (OpenAlex) Açık erişimli tam metinKaynak: OpenAlex

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

    Clinical Dysmorphology, 2022

    DOI 10.1097/mcd.0000000000000430 PMID 36094357 2 atıf (OpenAlex) Kaynak: OpenAlex

  18. 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 atıf (OpenAlex) Açık erişimli tam metinKaynak: OpenAlex

  19. 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 atıf (Europe PMC) Kaynak: Europe PMC

  20. Kabızlık ve Üfürümle Tespit Edilen Williams-Beuren Sendromu

    Yüksek İhtisas Üniversitesi Sağlık Bilimleri Dergisi, 2021

    DOI 10.51261/yiu.2021.00031 Açık erişimli tam metinKaynak: OpenAlex

  21. Tedaviyi Etkileyen Tarama Testleri

    Çanakkale Onsekiz Mart University AVESIS, 2020

    12 atıf (OpenAlex) Kaynak: OpenAlex

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

    Çanakkale Onsekiz Mart University AVESIS, 2020

    Kaynak: OpenAlex

  23. 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

    Kaynak: OpenAlex

  24. Tekrarlayan Gebelik Kaybı olan olguların kopya sayısı değişikliklerinin profillemesi

    Çanakkale Onsekiz Mart University AVESIS, 2020

    Kaynak: OpenAlex

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

    Çanakkale Onsekiz Mart University AVESIS, 2020

    Kaynak: OpenAlex

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

    Çanakkale Onsekiz Mart University AVESIS, 2019

    Kaynak: OpenAlex

  27. 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 atıf (OpenAlex) Açık erişimli tam metinKaynak: OpenAlex

  28. 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 Kaynak: OpenAlex

  29. 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 Kaynak: OpenAlex

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

    Journal of Biotechnology, 2018

    DOI 10.1016/j.jbiotec.2018.06.210 Kaynak: OpenAlex

  31. 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

    Kaynak: OpenAlex

  32. Çanakkale popülasyonunda HBB(Hemoglobin Subunit Beta) geni mutasyon profilleri

    Çanakkale Onsekiz Mart University AVESIS, 2018

    Kaynak: OpenAlex

  33. 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 Açık erişimli tam metinKaynak: OpenAlex

  34. 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 Açık erişimli tam metinKaynak: OpenAlex

  35. 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 Kaynak: OpenAlex

  36. 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 Kaynak: OpenAlex

  37. 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 Kaynak: OpenAlex

  38. 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 Kaynak: OpenAlex

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

    Biomedical Genetics and Genomics, 2017

    DOI 10.15761/bgg.1000130 Açık erişimli tam metinKaynak: OpenAlex

  40. 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

    Kaynak: OpenAlex