Uzm. Dr. Biray Ertürk

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 Texte intégral en libre accèsSource : Europe PMC

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

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

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) Texte intégral en libre accèsSource : OpenAlex

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) Texte intégral en libre accèsSource : Europe PMC

SCN1A DIŞINDAKİ SODYUM KANALOPATİLERİ: ÇOK MERKEZLİ ÇALIŞMA

Kocaeli Üniversitesi - AVESİS, 2025

Texte intégral en libre accèsSource : OpenAlex

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) Texte intégral en libre accèsSource : OpenAlex

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

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

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

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

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) Texte intégral en libre accèsSource : OpenAlex

Parental chromosomal abnormalities in individuals with recurrent pregnancy loss

Zeynep Kamil Medical Journal, 2022

DOI 10.14744/zkmj.2021.66933 Source : OpenAlex

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

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) Texte intégral en libre accèsSource : OpenAlex

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) Texte intégral en libre accèsSource : Europe PMC

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

Akdeniz Medical Journal, 2021

DOI 10.53394/akd.1037759 1 citation (OpenAlex) Texte intégral en libre accèsSource : OpenAlex

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

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) Texte intégral en libre accèsSource : ORCID

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 Texte intégral en libre accèsSource : OpenAlex

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

Cleidocranial Dysplasia: A New Mutation

European Archives of Medical Research, 2018

DOI 10.4274/eamr.galenos.2018.23600 Texte intégral en libre accèsSource : OpenAlex

Innovations in Genetic Medicine: A Journey in Time

European Archives of Medical Research, 2018

DOI 10.5152/eamr.2018.07279 Texte intégral en libre accèsSource : OpenAlex

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) Texte intégral en libre accèsSource : ORCID

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) Texte intégral en libre accèsSource : OpenAlex

Prenatal Evaluation of MicroRNA Expressions in Pregnancies with Down Syndrome

BioMed Research International, 2016

DOI 10.1155/2016/5312674 PMID 27110565 22 citations (OpenAlex) Texte intégral en libre accèsSource : OpenAlex

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

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) Texte intégral en libre accèsSource : OpenAlex