Doç. Dr. Özlem Akgün Doğan

• Intellectual Disability 5 publications
  Source: OpenAlex / PubMed MeSHView publications
• Osteochondrodysplasias 5 publications
• Neurodevelopmental Disorders 2 publications
• Hypertriglyceridemia 2 publications
• Dwarfism 2 publications
• COVID-19 2 publications
• Fever 2 publications
• Abnormalities, Multiple 2 publications
• Trisomy 13 Syndrome 2 publications

Medical areas of interest stated by the doctor on the institution profile. Source: acibadem.com.tr.

Experience

• 2021Acıbadem Sağlık Grubuacibadem.com.tr

Education

• 2017Hacettepe Üniversitesi Tıp Fakültesi, Çocuk Genetik Hastalıkları, Üst Uzmanlıkacibadem.com.tr
• 2011Dr. Sami Ulus Kadın Doğum, Çocuk Sağlığı ve Hastalıkları Eğitim ve Araştırma Hastanesi, Çocuk Sağlığı ve Hastalıkları, Uzmanlıkacibadem.com.tr
• 2006Hacettepe Üniversitesi Tıp Fakültesi, Üniversiteacibadem.com.tr

• SpecialtyPaediatric Genetic Diseasesacibadem.com.trFrom source
• InstitutionAcıbadem Altunizade Hastanesiacibadem.com.trFrom source
• Area of workIntellectual DisabilityExtracted from 5 publications · Model version —From source
• Publications68 publicationsOpenAlexFrom source
• Last synchronised4 November 2026 20:47https://www.acibadem.com.tr/doktor/ozlem-akgun-dogan/acibadem.com.tr

1. New genotype-phenotype correlations and management recommendations for individuals with RERE variants

   Genetics in Medicine, 2026

   DOI 10.1016/j.gim.2026.102580 PMID 41988794 1 citation (Europe PMC) Source: OpenAlex

2. Unmasking genetic etiologies in neurodevelopmental disorders characterized by Cerebral Palsy: insights from integrative genomic approaches

   Frontiers in Neurology, 2026

   DOI 10.3389/fneur.2026.1742186 PMID 41835067 Open-access full textSource: OpenAlex

3. Periodic Genetic Reanalysis Identifies a Novel De Novo NOTCH1 Variant: A Case Report

   Journal of Child Neurology, 2026

   DOI 10.1177/08830738261422860 PMID 41834381 Source: OpenAlex

4. Undiagnosed Diseases Program-Istanbul (UDP-IST): Diagnostic Impact of Systematic Genomic Reanalysis with Deep Phenotyping in 121 Patients

   Research Square, 2026

   DOI 10.21203/rs.3.rs-8842818/v1 Open-access full textSource: OpenAlex

5. Unprocessed U1 snRNAs as a biomarker of INTS11- and BRAT1-related neurodevelopmental disorders

   Genome Medicine, 2026

   DOI 10.1186/s13073-026-01667-1 PMID 42116163 Open-access full textSource: OpenAlex

6. Unprocessed U1 snRNAs as a biomarker of INTS11- and BRAT1-related neurodevelopmental disorders.

   Open Access CRIS of the University of Bern, 2026

   DOI 10.48620/97667 Source: OpenAlex

7. Additional file 1 of Pilot study: the impact of simulation-based pediatric basic life support training on the performance of caregivers of children with Rett syndrome

   Figshare, 2026

   DOI 10.6084/m9.figshare.32444777 Source: OpenAlex

8. Additional file 1 of Unprocessed U1 snRNAs as a biomarker of INTS11- and BRAT1-related neurodevelopmental disorders

   Figshare, 2026

   DOI 10.6084/m9.figshare.32904645 Source: OpenAlex

9. Perineal dysmorphism and patellar luxation in SLC35A2-CDG: a new piece in the glycosylation puzzle

   The Turkish Journal of Pediatrics, 2026

   DOI 10.24953/turkjpediatr.2026.8349 Source: OpenAlex

10. Pilot study: the impact of simulation-based pediatric basic life support training on the performance of caregivers of children with Rett syndrome

    BMC Medical Education, 2026

    DOI 10.1186/s12909-026-09158-y PMID 41963928 Open-access full textSource: OpenAlex