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Oguzhan Demir

Observed names: Demir Oguzhan, Oğuzhan Demir
Observed institution: Karadeniz Technical University
ORCID: 0009-0007-4062-2401
Observed ORCID: 0009-0007-4062-2401
OpenAlex ID: A5113269669
Secondary findings in genes related to cancer phenotypes in Turkish exome sequencing data from 2020 individuals
2024 · Oguzhan Demir, Kubra Adanur Saglam, et al. · American Journal of Medical Genetics Part A · 4
The clinical spectrum of MECP2 variants in males: a multicenter Turkish cohort of 22 probands, with implications for diagnosis and variant interpretation
2026 · Çağrı Doğan, Mehmet Burak Mutlu, et al. · BMC Pediatrics
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Additional file 2 of The clinical spectrum of MECP2 variants in males: a multicenter Turkish cohort of 22 probands, with implications for diagnosis and variant interpretation
2026 · Çağrı Doğan, Mehmet Burak Mutlu, et al. · Figshare
Additional file 1 of The clinical spectrum of MECP2 variants in males: a multicenter Turkish cohort of 22 probands, with implications for diagnosis and variant interpretation
2026 · Çağrı Doğan, Mehmet Burak Mutlu, et al. · Figshare
The Angelman Mimic: Navigating Diagnostic Uncertainty in a Genetically Diverse Landscape
2026 · Safiye Gunes Sager, Omar Alomari, et al. · Research Square
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Case Report: Papillon–Lefèvre syndrome beyond keratoderma: two index presentations and sibling screening in two families
2026 · Hilal Karabag Citlak, Fatih Sultan Mehmet Koc, et al. · Frontiers in Immunology
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Phenotypic heterogeneity in carriers of a pathogenic MSH2 variant: implications for the diagnosis of Lynch syndrome
2026 · Tuna Apuhan, Oguzhan Demir, et al. · Journal of Cancer Research and Clinical Oncology
Clinical, electrophysiological, and neuroimaging characterization of childhood-onset non-5q spinal muscular atrophies: a retrospective pediatric case series
2026 · Beril Dilber, Elif Acar Arslan, et al. · Neurogenetics
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A recurrent c.953A>C (p. Gln318Pro) variant in ALG11 causing congenital disorder of glycosylation in Turkish population
2025 · Pinar Ozkan Kart, Oguzhan Demir, et al. · Neurogenetics
P462: Exploring genotypic diversity in Angelman-like syndromes: Clinical implications
2025 · Ogun Bebek, Safiye Gunes Sager, et al. · Genetics in Medicine Open
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Classification of Brain Magnetic Resonance Imaging Abnormalities and Spectrum of Neurological Findings in a Cohort with Copy Number Variation-Related Disorders
2024 · Ayberk Türkyılmaz, Safiye Güneş Sağer, et al. · Molecular Syndromology
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Works count: 11
Citation count: 4
H-index: 1
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