Prof. Dr. Berk Özyılmaz

Neonatal-onset genetic epilepsies: Insights from a large multicentre cohort

Seizure, 2026

DOI 10.1016/j.seizure.2026.04.028 PMID 42114232 Source : OpenAlex

Clinical and Genetic Heterogeneity of Congenital Myasthenic Syndromes: Insights From a Large Cohort

Neurology and Clinical Neuroscience, 2026

DOI 10.1111/ncn3.70057 Texte intégral en libre accèsSource : ORCID

IQSEC2 Mutation-Related Rett Syndrome

Journal of Pediatric Epilepsy, 2026

DOI 10.53391/2146-4588.1007 Source : OpenAlex

Symptom-based classification of 16p11.2 copy number variations underlying the multidimensional autism spectrum disorder phenotype using machine learning methods

Research in Autism, 2026

DOI 10.1016/j.reia.2026.202865 Texte intégral en libre accèsSource : OpenAlex

Genetic and Clinical Determinants of Chronic Thromboembolic Pulmonary Hypertension: The Role of PAI-1 Polymorphism

International Journal of Molecular Sciences, 2026

DOI 10.3390/ijms27020758 PMID 41596405 Texte intégral en libre accèsSource : ORCID

MCPH1 and DNA Damage Response Pathway Genes as Candidate Susceptibility Loci in Hereditary Breast Cancer

Diagnostics, 2026

DOI 10.3390/diagnostics16182967 PMID 42793752 Texte intégral en libre accèsSource : ORCID

Genetic Landscape of Pediatric Dyslipidemia in a Turkish Cohort: Insights From a Single‐Center Experience

Annals of Human Genetics, 2026

DOI 10.1111/ahg.70028 PMID 41084934 Source : ORCID

Characterization of the molecular and clinical features of Multilocus Inherited Neoplasia Allelic Syndrome (MINAS) cases in the Turkish population

Familial Cancer, 2026

DOI 10.1007/s10689-026-00577-w PMID 42258060 1 citation (Europe PMC) Source : ORCID

Expanding mutational landscape and clinical phenotype of the CASK-related neurological disorders

Journal of Human Genetics, 2026

DOI 10.1038/s10038-026-01523-5 Source : ORCID

A novel sporadic sodium channel mutation in a young adult patient with paramyotonia congenita

Turkish Journal of Neurology, 2026

DOI 10.55697/tnd.2026.514 Texte intégral en libre accèsSource : ORCID

Extremity Pain in a Patient with Diffuse Muscle Weakness: A Clinical Picture Orchestrated by Two Uncommon Mutations

Fiziksel Tıp ve Rehabilitasyon Bilimleri Dergisi, 2026

DOI 10.31609/jpmrs.2025-112349 Texte intégral en libre accèsSource : ORCID

Integrative and systematic genomic approaches to improve diagnosis in rare and undiagnosed diseases: results from the RareBoost project

European Journal of Human Genetics, 2026

DOI 10.1038/s41431-026-02177-9 PMID 42426151 2 citations (OpenAlex) Texte intégral en libre accèsSource : OpenAlex

A Brief Overview of DNA and Chromosomal Disorders

Springer eBooks, 2026

DOI 10.1007/978-3-032-23963-1_2 Source : OpenAlex

Functional stabilization with ataluren in ambulatory children with nonsense mutation Duchenne muscular dystrophy: a real-world ambispective cohort study

Frontiers in Neurology, 2026

DOI 10.3389/fneur.2026.1911546 Texte intégral en libre accèsSource : OpenAlex

SCN1A DIŞINDAKİ SODYUM KANALOPATİLERİ: ÇOK MERKEZLİ ÇALIŞMA

Kocaeli Üniversitesi - AVESİS, 2025

Texte intégral en libre accèsSource : OpenAlex

Beyond the Copy Number Differences: The Phenotypic Diversity of Children With 15q11.2 Microdeletions and Microduplications

Journal of Child Neurology, 2025

DOI 10.1177/08830738251366862 PMID 40856583 2 citations (Europe PMC) Source : ORCID

Phenotypic variability in cases with CACNA1A mutation

European journal of pediatrics, 2025

DOI 10.1007/s00431-025-06062-3 PMID 40111503 5 citations (Europe PMC) Texte intégral en libre accèsSource : ORCID

Genetic and clinical spectrum of PIEZO2-related disorders: insights from a multicenter study of 26 patients

Neuromuscular Disorders, 2025

DOI 10.1016/j.nmd.2025.105423 PMID 40674812 4 citations (OpenAlex) Source : OpenAlex

The Prevalence of Migraine in Children Diagnosed with Familial Mediterranean Fever

Neuropediatrics, 2025

DOI 10.1055/a-2509-0278 PMID 39809437 1 citation (Europe PMC) Source : ORCID

Clinical and Genetic Spectrum of RYR1-Related Disease

Molecular Syndromology, 2025

DOI 10.1159/000545612 PMID 41675683 Texte intégral en libre accèsSource : OpenAlex

Genetic Evaluation of Patients with Clinically Suspected Hereditary Spastic Paraplegia with Seven Novel Variants

Annals of Indian Academy of Neurology, 2025

DOI 10.4103/aian.aian_1068_24 PMID 40445718 Texte intégral en libre accèsSource : OpenAlex

Demographic, clinical, and genetic characteristics of patients with Limb-Girdle Muscular Dystrophies (LGMD): A single tertiary-center experience

European Journal of Paediatric Neurology, 2025

DOI 10.1016/j.ejpn.2025.07.009 PMID 40774080 2 citations (Europe PMC) Source : ORCID

Prenatal Findings and Perinatal Outcomes of Rare Autosomal Trisomies: A Retrospective Cohort Study

Fetal and pediatric pathology, 2025

DOI 10.1080/15513815.2025.2520251 PMID 40537994 Source : Europe PMC

A Comprehensive Perspective on Febrile Seizures in Children: A Prospective Cohort Study with Evaluation of Clinical, Laboratory, and Genetic Features

Journal of Clinical Medicine, 2025

DOI 10.3390/jcm14227918 PMID 41302954 1 citation (Europe PMC) Texte intégral en libre accèsSource : ORCID

Clinical and Demographic Characteristics of Becker Muscular Dystrophy Cases

Turkish Journal of Pediatric Disease, 2025

DOI 10.12956/tchd.1557901 1 citation (OpenAlex) Texte intégral en libre accèsSource : ORCID

451PGenetic and clinical spectrum of PIEZO2-related disorders: insights from a multicenter study of 26 patients

Neuromuscular Disorders, 2025

DOI 10.1016/j.nmd.2025.105774 Source : OpenAlex

Association between fetal fraction of cell-free DNA and adverse pregnancy outcomes

Archives of Gynecology and Obstetrics, 2024

DOI 10.1007/s00404-024-07443-z PMID 38441603 3 citations (Europe PMC) Source : ORCID

JAKCalc: A machine-learning approach to rationalized JAK2 testing in patients with elevated hemoglobin levels

Medicine, 2024

DOI 10.1097/md.0000000000037751 PMID 38579024 4 citations (Europe PMC) Texte intégral en libre accèsSource : ORCID

Genetic Overview of Esophageal Cancer

Springer eBooks, 2024

DOI 10.1007/978-3-031-47024-0_6 Source : OpenAlex

A New Case of Kilquist's Syndrome with a Novel Variant in SLC12A2 and a Brief Review of the Literature

Journal of Pediatric Genetics, 2024

DOI 10.1055/s-0044-1801352 Texte intégral en libre accèsSource : ORCID

A comprehensive perspective on febrile seizures in children: prospective evaluation of clinical, laboratory, and genetic features

Research Square, 2024

DOI 10.21203/rs.3.rs-5375557/v1 Texte intégral en libre accèsSource : ORCID

Evaluation of microRNA expression levels during the craving period of patients diagnosed with severe alcohol use disorder

Journal of Substance Use, 2024

DOI 10.1080/14659891.2023.2217267 1 citation (OpenAlex) Source : ORCID

PIEZO2-associated distal arthrogryposis: phenotypic spectrum and genotypephenotype correlations in a multicenter case series

Neuromuscular Disorders, 2024

Source : ORCID

489P PIEZO2-associated distal arthrogryposis: phenotypic spectrum and genotype-phenotype correlations in a multicenter case series

Neuromuscular Disorders, 2024

DOI 10.1016/j.nmd.2024.07.335 Source : OpenAlex

The Case Report of Hemoglobin Hamadan: HBB:c.169G>C (B 56 (D7) Gly-Arg) in İstanbul

Turkiye Klinikleri Journal of Case Reports, 2023

DOI 10.5336/caserep.2022-94777 Texte intégral en libre accèsSource : OpenAlex

A new nationwide initiative to explore genetic variants in a large Turkish hereditary neuropathy cohort

Neuromuscular Disorders, 2023

DOI 10.1016/j.nmd.2023.07.478 Source : ORCID

A Quick Glance at the Therapeutic Approaches for Neuromuscular Disorders

Clues for Differential Diagnosis of Neuromuscular Disorders, 2023

DOI 10.1007/978-3-031-33924-0_19 Source : ORCID

Assessment of mimicking by EBV-CMV immunoglobulin M of anti-HLA antibodies

Journal of immunological methods, 2023

DOI 10.1016/j.jim.2023.113577 PMID 37865308 Source : ORCID

Chromosomal Microarray Analysis in children with unexplained neurodevelopmental disorder

EUROPEAN JOURNAL OF HUMAN GENETICS, 2023

Source : ORCID

Molecular Diagnostic Procedures and Genetics in Neuromuscular Disorders

Clues for Differential Diagnosis of Neuromuscular Disorders, 2023

DOI 10.1007/978-3-031-33924-0_7 1 citation (OpenAlex) Source : ORCID

THE EFFECT OF CASR, CALCR, ORAI1, AND SCL13 GENE POLYMORPHISM ON THE DEVELOPMENT OF UROLITHIASIS IN TURKISH CHILDREN

PEDIATRIC NEPHROLOGY, 2023

Source : ORCID

Atypical STAT5B deficiency, severe short stature and mild immunodeficiency associated with a novel homozygous STAT5B Variant

Molecular and Cellular Endocrinology, 2022

DOI 10.1016/j.mce.2022.111799 PMID 36265659 8 citations (Europe PMC) Texte intégral en libre accèsSource : OpenAlex

Experiences in the molecular genetic and histopathological evaluation of calpainopathies

Neurogenetics, 2022

DOI 10.1007/s10048-022-00687-4 PMID 35157181 5 citations (Europe PMC) Source : ORCID

Gilbert Syndrome and Genetic Findings in Children: A Tertiary-Center Experience from Turkey

Turkish Archives of Pediatrics, 2022

DOI 10.5152/turkarchpediatr.2022.21291 PMID 35781232 3 citations (Europe PMC) Texte intégral en libre accèsSource : ORCID

A CASE WITH VESICOURETERAL REFLUX AND MORNING GLORY ANOMALY: WHAT IS YOUR DIAGNOSIS?

PEDIATRIC NEPHROLOGY, 2022

Source : ORCID

A STROMME SYNDROME PATIENT WITH END STAGE RENAL DISEASE AND A NOVEL PATHOGENIC VARIANT IN CENPF GENE

PEDIATRIC NEPHROLOGY, 2022

Source : ORCID

ALK, ROS1 and EGFR status of lung cancers in the Aegean Region of Turkey

Indian journal of pathology & microbiology, 2022

DOI 10.4103/ijpm.ijpm_1129_20 PMID 35435363 4 citations (Europe PMC) Texte intégral en libre accèsSource : ORCID

Cooccurring Type 1 Diabetes Mellitus and Autoimmune Thyroiditis in a Girl with Craniofrontonasal Syndrome: Are EFNB1 Variants Associated with Autoimmunity?

Pharmaceuticals (Basel, Switzerland), 2022

DOI 10.3390/ph15121535 PMID 36558986 Texte intégral en libre accèsSource : ORCID

MULTICYSTIC DYSPLASTIC KIDNEY AND A RARE GENETIC ABNORMALITY IN A GIRL INFANT

PEDIATRIC NEPHROLOGY, 2022

Source : ORCID

Spinal muscular atrophy with predominant lower extremity (SMA-LED) with no signs other than pure motor symptoms at the intersection of multiple overlap syndrome

Brain & development, 2022

DOI 10.1016/j.braindev.2021.12.001 PMID 34974950 3 citations (Europe PMC) Source : ORCID