Muhsin Özgür ÇOĞULU
Tıp Fakültesi, Dahili Tıp Bilimleri Bölümü, Çocuk Sağlığı Ve Hastalıkları Anabilim Dalı
Araştırma alanları: Sağlık Bilimleri, Tıp, Dahili Tıp Bilimleri, Tıbbi Genetik, Çocuk Sağlığı ve Hastalıkları, Pediatrik Genetik ve Teratoloji, Temel Tıp Bilimleri, Temel Bilimler, Yaşam Bilimleri, Moleküler Biyoloji ve Genetik
Yayınlar
- Targeted Analysis of Spliceosomal snRNA Genes in Unexplained Neurodevelopmental Disorders Identifies ReNU Syndrome and RNU4atac-opathy (2026)
- Analysis of fetal DNA in biological samples derived from maternal exhaled breath (2026)
- Tıpta İnsan Genetiği (2026)
- Tıpta İnsan Genetiği (2026)
- CDK4 and CDK6 variants in patients with primary microcephaly lead to cell cycle defects and mitochondria-induced apoptosis (2026)
- Treatment strategies, radiological recovery, and neurodevelopmental outcomes in paediatric Maple Syrup Urine Disease: a 20-year single-centre experience from Türkiye (2026)
- The genetic landscape of childhood-onset dystonia in a nationwide Turkish cohort: Clinical spectrum, molecular diagnostics, and therapeutic implications (2026)
- Electroclinical predictors for drug-resistant epilepsy and outcome in tuberous sclerosis complex: a single center pediatric cohort (2026)
- Aggrecan expression in morphea tissues: a potential contributor to fibrotic extracellular matrix accumulation (2026)
- Genetic Variant Distribution in Rare Hereditary Coagulation Disorders Detected in a Next-Generation Sequencing-Based Coagulopathy Panel (2026)
- Analysis of fetal DNA in biological samples derived from maternal exhaled breath (2026)
- The genetic landscape of childhood-onset dystonia in a nationwide Turkish cohort: Clinical spectrum, molecular diagnostics, and therapeutic implications (2026)
- Treatment strategies, radiological recovery, and neurodevelopmental outcomes in paediatric Maple Syrup Urine Disease: a 20-year single-centre experience from Türkiye (2026)
- Aggrecan expression in morphea tissues: a potential contributor to fibrotic extracellular matrix accumulation (2026)
- Novel Missense Variant in the PAN2 Gene Associated With Congenital Anomalies and Neurodevelopmental Delay: Expanding the Phenotypic and Mutational Spectrum of PAN2-Related Disorders (2025)
- Genotypic and Phenotypic Landscape of KBG Syndrome: A Study of 23 Turkish Individuals (2025)
- Dentofacial Findings and Management of two Pediatric Patients With Bainbridge-Ropers Syndrome: A Case Report (2025)
- The anticancer potential of Origanum onites L. in gastric cancer through epigenetic alterations (2025)
- Acute-onset axonal neuropathy following infection in children with biallelic RCC1 variants: a case series (2025)
- Strengthening the candidacy of the ITSN1 gene: a novel de novo variant in a patient with autism spectrum disorder (2025)
- Transition from assigned sex at birth to individual gender identity in cases of differences of sex development (2025)
- KANSER BİYOLOJİSİ (2025)
- A New Unc45a 5'utr Variant In Patients With Aagenaes Syndrome (2025)
- A New Unc45a 5'utr Variant In Patients With Aagenaes Syndrome (2025)
- Strengthening the candidacy of the ITSN1 gene: a novel de novo variant in a patient with autism spectrum disorder (2025)
- Acute-onset axonal neuropathy following infection in children with biallelic RCC1 variants: a case series (2025)
- Diagnostic Utility in Next-Generation Sequencing by Implicating CNV Analysis in Eleven Patients with Peters Plus Syndrome: A Single-Center Experience (2025)
- Next generation sequencing in children with isolated congenital cataract (2025)
- Novel Missense Variant in the PAN2 Gene Associated With Congenital Anomalies and Neurodevelopmental Delay: Expanding the Phenotypic and Mutational Spectrum of PAN2‐Related Disorders (2025)
- Genotypic and Phenotypic Landscape of KBG Syndrome: A Study of 23 Turkish Individuals (2025)
- From Clinical Observation to Genetic Confirmation: Somatic Mosaic Mutations in RHOA on Ectodermal Dysplasia With Multi‐System Involvement (2025)
- Next generation sequencing in children with isolated congenital cataract (2025)
- Diagnostic Utility in Next-Generation Sequencing by Implicating CNV Analysis in Eleven Patients with Peters Plus Syndrome: A Single-Center Experience (2025)
- The Anticancer Potential of Origanum onites L. in Gastric Cancer through Epigenetic Alterations (2025)
- Genetic Risk of Axonal Neuropathy Following Infection (2025)
- A New Unc45a 5'utr Variant In Patients With Aagenaes Syndrome (2025)
- Diagnostic Utility in Next-Generation Sequencing by Implicating CNV Analysis in Eleven Patients with Peters Plus Syndrome: A Single-Center Experience (2025)
- Dentofacial Findings and Management of two Pediatric Patients With Bainbridge‐Ropers Syndrome: A Case Report (2025)
- Genotypic and Phenotypic Landscape of KBG Syndrome: A Study of 23 Turkish Individuals (2025)
- Acute-onset axonal neuropathy following infection in children with biallelic RCC1 variants: a case series (2025)
- Strengthening the candidacy of the ITSN1 gene: a novel de novo variant in a patient with autism spectrum disorder (2025)
- Identification of the molecular etiology in rare congenital hemolytic anemias using next-generation sequencing with exome-based copy number variant analysis (2024)
- Molecular Genetic Diagnosis with Targeted Next Generation Sequencing in a Cohort of Turkish Osteogenesis Imperfecta Patients and Their Genotype-phenotype Correlation (2024)
- The Utility of Genetic Testing in Infantile Epileptic Spasms Syndrome: A Step-Based Approach in the Next-Generation Sequencing Era (2024)
- Scientific Business Abstracts (2024)
- Diagnostic yield of exome sequencing-based copy number variation analysis in Mendelian disorders: a clinical application (2024)
- Molecular Genetic Diagnosis with Targeted Next Generation Sequencing in a Cohort of Turkish Osteogenesis Imperfecta Patients and Their Genotype-phenotype Correlation (2024)
- KANSER BİYOLOJİSİ (2024)
- Identification of the molecular etiology in rare congenital hemolytic anemias using next‐generation sequencing with exome‐based copy number variant analysis (2024)
- Effectiveness of whole exome sequencing analyses in the molecular diagnosis of osteogenesis imperfecta (2024)
- The Utility of Genetic Testing in Infantile Epileptic Spasms Syndrome: A Step-Based Approach in the Next-Generation Sequencing Era (2024)
- Effectiveness of whole exome sequencing analyses in the molecular diagnosis of osteogenesis imperfecta (2024)
- Türk Popülasyonunda MMP2 ve MMP9 Değişimlerinin Spontan Abortus Etiyolojisindeki Rolü (2024)
- A case of Williams syndrome with Wolff–Parkinson–White syndrome (2024)
- Genetic Risk of Axonal Neuropathy Following Infection (2024)
- Scientific Business Abstracts (2024)
- Diagnostic yield of exome sequencing-based copy number variation analysis in Mendelian disorders: a clinical application (2024)
- From Clinical Observation to Genetic Confirmation: Somatic Mosaic Mutations in RHOA on Ectodermal Dysplasia With Multi‐System Involvement (2024)
- S-24 Yeni Nesil Dizi Analizi (Ngs) Tabanlı Kopya Sayısı Değişikliği (Cnv) Analizinin Mendelyen Hastalıkların Tanısındaki Önemi (2023)
- Biallelic variants in <i>ADAMTS15</i> cause a novel form of distal arthrogryposis (vol 24, pg 2187, 2022) (2023)
- Diagnostic yield of next generation sequencing-based copy number variation analysis in Mendelian Disorders (2023)
- Homozygeous patogenic variants in the LTBP1 gene detected in two patients diagnosed with cutis laxa type, IIE (2023)
- Rare skeletal dysplasias diagnosed by next-generation sequence analysis (2023)
- Hiperfosfotazya - Mental Retardasyon Sendromu Düşünülen Olgularda Tüm Ekzom Sekanslama ile Moleküler Etiyolojinin Belirlenmesi (2023)
- İskelet Displazisi Ön Tanılı Olgularda Moleküler Etiyoloji ve Genetik Danışmanın Önemi (2023)
- X’E Bağlı Hipofosfotemik Rikets Olgusunda Nadir Bir Neden: Mozaik Phex Gen Varyantı (2023)
- Sendromik Boy Kısalığı Ayırıcı Tanısında Düşünülmesi Gereken Nadir Bir Sendrom: Troyer Sendromu (2023)
- 2q31.1 mikrodelesyon sendromu için kritik bölge DLX2 geni olabilir mi? (2023)
- Arboleda-Tham Sendromlu Türkiye’den bildirilen ilk olgu ve KAT6A geninde yeni mutasyon (2023)
- Biallelic variants in ADAMTS15 cause a novel form of distal arthrogryposis (2023)
- A unique case of thrombophilia: the role of F9 gene duplication and increased factor IX activity in cerebral venous thrombosis (2023)
- Investigation of miRNA and cytokine expressions in latent tuberculosis infection and active tuberculosis (2022)
- Evaluation of social cognition, autistic traits, and dysmorphology in comorbid specific learning disorder and attention-deficit/hyperactivity disorder (2022)
- Association between clinical variations and copy number variations in cases with Turner syndrome (2022)
- LSM1 is the new candidate gene for neurodevelopmental disorder (2022)
- C20orf24: A potential novel gene responsible for Cerebrofaciothoracic Dysplasia. (2022)
- Investigation of miRNA and cytokine expressions in latent tuberculosis infection and active tuberculosis (2022)
- Investigation of miRNA and cytokine expressions in latent tuberculosis infection and active tuberculosis (2022)
- Does MicroRNA Profile Differ in Early Onset Coronary Artery Disease? (2022)
- Clinical and molecular evaluation of MEFV gene variants in the Turkish population: a study by the National Genetics Consortium (2022)
- Prenatal diagnosis of a case with tetrasomy 9p confirmed by cytogenetics, FISH, microarray analysis and review (2022)
- Biallelic variants in ADAMTS15 cause a novel form of distal arthrogryposis. (2022)
- The Effect of Radiofrequency Waves on Pregnant Mice in Association with Genes Involved in Neuronal Migration (2022)
- Clinical and molecular evaluation of <i>MEFV</i> gene variants in the Turkish population: a study by the National Genetics Consortium (2022)
- Biallelic variants in ADAMTS15 cause a novel phenotype characterized by congenital contractures of the hands and feet with absent palmar creases (2022)
- Biallelic variants in ADAMTS15 cause a novel form of distal arthrogryposis (2022)
- Evaluation of social cognition, autistic traits, and dysmorphology in comorbid specific learning disorder and attention-deficit/hyperactivity disorder (2022)
- Does MicroRNA Profile Differ in Early Onset Coronary Artery Disease? (2022)
- Propolis Extract Regulates microRNA Expression in Glioblastoma and Brain Cancer Stem Cells. (2022)
- C20orf24: A potential novel gene responsible for Cerebrofaciothoracic Dysplasia (2022)
- The Effect of Radiofrequency Waves on Pregnant Mice in Association with Genes Involved in Neuronal Migration (2022)
- Propolis Extract Regulates microRNA Expression in Glioblastoma and Brain Cancer Stem Cells. (2022)
- Prenatal diagnosis of a case with tetrasomy 9p confirmed by cytogenetics, FISH, microarray analysis and review (2022)
- Clinical and molecular evaluation of MEFV gene variants in the Turkish population: a study by the National Genetics Consortium (2022)
- The association between genetic polymorphisms in matrix metalloproteinases and caries experience (2021)
- Four diseases, PLAID, APLAID, FCAS3 and CVID and one gene (PHOSPHOLIPASE C, GAMMA-2; PLCG2): Striking clinical phenotypic overlap and difference (2021)
- Matriks metalloproteinazları genleri polimorfizmleri ve diş çürükleri ilişkisi (2021)
- 20-year experience on prenatal diagnosis in a reference university medical genetics center in Turkey (2021)
- Biallelic variants in ADAMTS15 cause a novel phenotype characterized by congenital contractures of the hands and feet with absent palmar creases (2021)
- YENİDOĞAN BEBEKLERDE NEKROTİZAN ENTEROKOLİT OTOİNFLAMATUAR HASTALIĞIN GÖSTERGESİ MİDİR ? (2021)