Özlem Akgün Doğan

Akademik Profiller

1. 1
   Molecular Consequences of CCN6 Variants Encoding WISP3 in Progressive Pseudorheumatoid DysplasiaInternational Journal of Molecular Sciences
   2025
2. 2
   Undiagnosed Hackathon Ends Diagnostic Odyssey in a Patient With DNA2‐Related Rothmund–Thomson SyndromeAmerican Journal of Medical Genetics Part A
   2025
3. 3
   Exocrine pancreatic insufficiency as an unusual extrarenal manifestation of proximal renal tubular acidosis associated with a novel SLC4A4 mutationPediatric Nephrology
   2025
4. 4
   Two new patients with acromesomelic dysplasia, PRKG2 type—identification and characterization of the first missense variantEuropean Journal of Human Genetics
   2024
5. 5
   Impact of deep phenotyping: high diagnostic yield in a diverse pediatric population of 172 patients through clinical whole-genome sequencing at a single centerFrontiers in Genetics
   2024
6. 6
   Magnetic resonance imaging based kidney volume assessment for risk stratification in pediatric autosomal dominant polycystic kidney diseaseFrontiers in Pediatrics
   2024
7. 7
   Clinical Heterogeneity and Different Phenotypes in Patients with SETD2 Variants: 18 New Patients and Review of the LiteratureGenes
   2023
8. 8
   DNAJC21-related thrombocytopenia in a young adult femaleAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics
   2023
9. 9
   Evaluation and Long-term Monitoring of Patients with MODY, and Description of Novel MutationsJournal of Academic Research in Medicine
   2022

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