Scientific work

Uzm. Dr. Biray Ertürk

28 publications. The source of the information is stated next to each publication.

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  1. Combined Immunodeficiency Associated With MAP2K1 p.Tyr130His Variant in Cardiofaciocutaneous Syndrome: A Case Report With Literature-Based Phenotypic Comparison

    Scandinavian journal of immunology, 2026

    DOI 10.1111/sji.70101 PMID 41708578 Open-access full textSource: Europe PMC

  2. Diagnosis of Paediatric Inborn Errors of Immunity in a MENA Cohort Referred for Recurrent Infections Using a Structured Clinical Algorithm: A Real-Life Cross-Sectional Study

    Journal of paediatrics and child health, 2026

    DOI 10.1111/jpc.70280 PMID 41498369 Source: Europe PMC

  3. A novel mutation in glycogen storage disease type XI presenting with neonatal cholestasis and infection-triggered hepatic flares

    Journal of Pediatric Endocrinology and Metabolism, 2026

    DOI 10.1515/jpem-2025-0654 PMID 42090597 Source: ORCID

  4. Prenatal diagnosis and management of desbuquois dysplasia type 1 due to CANT1 mutation: A case report

    Taiwanese Journal of Obstetrics and Gynecology, 2025

    DOI 10.1016/j.tjog.2024.11.010 PMID 40368527 1 citation (Europe PMC) Open-access full textSource: OpenAlex

  5. Genetic mutations and prognostic indicators in differentiated thyroid cancer: a molecular perspective

    Turkish journal of medical sciences, 2025

    DOI 10.55730/1300-0144.5944 PMID 40104288 2 citations (Europe PMC) Open-access full textSource: Europe PMC

  6. SCN1A DIŞINDAKİ SODYUM KANALOPATİLERİ: ÇOK MERKEZLİ ÇALIŞMA

    Kocaeli Üniversitesi - AVESİS, 2025

    Open-access full textSource: OpenAlex

  7. Shared Biological Pathways and Processes in Patients with Intellectual Disability: A Multicenter Study

    Neuropediatrics, 2023

    DOI 10.1055/a-2034-8528 PMID 36787800 2 citations (Europe PMC) Open-access full textSource: OpenAlex

  8. A very early onset MNGIE-like syndrome with POLG1 mutation and accompanying leukoencephalopathy

    Clinical Neurology and Neurosurgery, 2023

    DOI 10.1016/j.clineuro.2023.107712 PMID 37084649 4 citations (OpenAlex) Source: OpenAlex

  9. Response to: POLG1 variants can at most cause MNGIE-like but not classic MNGIE phenotypes

    Clinical Neurology and Neurosurgery, 2023

    DOI 10.1016/j.clineuro.2023.107893 PMID 37455189 Source: OpenAlex

  10. Clinical and genetic spectrum from a prototype of ciliopathy: Joubert syndrome

    Clinical Neurology and Neurosurgery, 2022

    DOI 10.1016/j.clineuro.2022.107560 PMID 36580738 11 citations (Europe PMC) Source: OpenAlex

  11. SERPINB11 variant-related liver injury in STEC-HUS: case reports and literature review

    Pediatric Nephrology, 2022

    DOI 10.1007/s00467-022-05602-5 PMID 35552823 2 citations (Europe PMC) Source: ORCID

  12. Large-scale discovery of novel neurodevelopmental disorder-related genes through a unified analysis of single-nucleotide and copy number variants

    Genome Medicine, 2022

    DOI 10.1186/s13073-022-01042-w PMID 35468861 46 citations (OpenAlex) Open-access full textSource: OpenAlex

  13. Parental chromosomal abnormalities in individuals with recurrent pregnancy loss

    Zeynep Kamil Medical Journal, 2022

    DOI 10.14744/zkmj.2021.66933 Source: OpenAlex

  14. Macrocephaly/autism syndrome exhibits neuroradiological abnormalities including Arnold-Chiari syndrome type I: Clinico-radiological spectrum of a PTEN-opathy

    Kocaeli Üniversitesi - AVESİS, 2022

    Source: OpenAlex

  15. Clinical and Pathological Characteristics of Patients with High-Risk Breast Cancer Based on BRCA Mutation Profiles: A Retrospective Study

    European Journal of Breast Health, 2021

    DOI 10.4274/ejbh.galenos.2020.6346 PMID 33870111 11 citations (Europe PMC) Open-access full textSource: OpenAlex

  16. Evaluation of S100A12 protein levels in children with familial Mediterranean fever

    Turkish journal of medical sciences, 2021

    DOI 10.3906/sag-2009-187 PMID 33576586 6 citations (Europe PMC) Open-access full textSource: Europe PMC

  17. Bir Nöromüsküler Hastalıklar Merkezinden Herediter Polinöropati Hastalarının Klinik, Elektrofizyolojik ve Genetik Profili

    Akdeniz Medical Journal, 2021

    DOI 10.53394/akd.1037759 1 citation (OpenAlex) Open-access full textSource: OpenAlex

  18. The MEFV gene and its association with familial Mediterranean fever, severe atopy, and recurrent respiratory tract infections

    Allergologia et Immunopathologia, 2020

    DOI 10.1016/j.aller.2019.12.010 PMID 32359823 8 citations (OpenAlex) Source: OpenAlex

  19. The Characteristics of SARS-CoV-2 Virus and Microbiological Diagnosis

    European Archives of Medical Research, 2020

    DOI 10.4274/eamr.galenos.2020.71501 6 citations (OpenAlex) Open-access full textSource: ORCID

  20. Evaluation of Laboratory Findings, Clinical Features and Rates of Diagnosis of Patients Admitted to Outpatient Clinic of Pediatric Neurology with Neuromuscular Manifestations

    Journal of Dr Behcet Uz Children s Hospital, 2020

    DOI 10.5222/buchd.2020.43155 Open-access full textSource: OpenAlex

  21. Cyclic manner of neutropenia in a patient withHAX-1mutation

    Pediatric Hematology and Oncology, 2018

    DOI 10.1080/08880018.2018.1486489 PMID 30346863 7 citations (OpenAlex) Source: OpenAlex

  22. Cleidocranial Dysplasia: A New Mutation

    European Archives of Medical Research, 2018

    DOI 10.4274/eamr.galenos.2018.23600 Open-access full textSource: OpenAlex

  23. Innovations in Genetic Medicine: A Journey in Time

    European Archives of Medical Research, 2018

    DOI 10.5152/eamr.2018.07279 Open-access full textSource: OpenAlex

  24. Meme kanseri kök hücrelerinde elajik asit ile indüklenmiş miRNA’ların ifadesi ve elajik asidin apoptoz üzerine etkisi

    Ege Tıp Dergisi, 2017

    DOI 10.19161/etd.399234 4 citations (OpenAlex) Open-access full textSource: ORCID

  25. Diagnostic Role of MicroRNA Expression Profile in the Prenatal Amniotic Fluid Samples of Pregnant Women with Down Syndrome

    Balkan Medical Journal, 2017

    DOI 10.4274/balkanmedj.2017.0511 PMID 29219113 27 citations (OpenAlex) Open-access full textSource: OpenAlex

  26. Prenatal Evaluation of MicroRNA Expressions in Pregnancies with Down Syndrome

    BioMed Research International, 2016

    DOI 10.1155/2016/5312674 PMID 27110565 22 citations (OpenAlex) Open-access full textSource: OpenAlex

  27. Molecular Basis ofβ-Thalassemia in the Population of the Aegean Region of Turkey: Identification of A Novel Deletion Mutation

    Hemoglobin, 2015

    DOI 10.3109/03630269.2015.1038354 PMID 26076395 11 citations (OpenAlex) Source: OpenAlex

  28. Sequencing of mutations in the serine/threonine kinase domain of the bone morphogenetic protein receptor type 2 gene causing pulmonary arterial hypertension

    The Anatolian Journal of Cardiology, 2015

    DOI 10.5152/anatoljcardiol.2015.6297 PMID 26645265 6 citations (OpenAlex) Open-access full textSource: OpenAlex