Dilek Uludağ Alkaya

Akademik Profiller

1. 1
   Genotypic and Phenotypic Landscape of KBG Syndrome: A Study of 23 Turkish IndividualsAmerican Journal of Medical Genetics Part A
   2025
2. 2
   Insights into Natural History, Phenotypic, and Molecular Spectrum in a Large Cohort of Osteosclerotic DisordersCalcified Tissue International
   2025
3. 3
   Comparison of the natural course of clinical and radiologic features in 13 patients with TRPV4-related skeletal dysplasiasPediatric Radiology
   2025
4. 4
   Further characterization of ARSK‐related mucopolysaccharidosis type 10American Journal of Medical Genetics Part A
   2024
5. 5
   The molecular spectrum of Turkish osteopetrosis and related osteoclast disorders with natural history, including a candidate gene, CCDC120Bone
   2023
6. 6
   Investigation of (Epi)genetic causes in syndromic short children born small for gestational ageEuropean Journal of Medical Genetics
   2023
7. 7
   Effects of Long-Term Pamidronate Treatment on Bone Density and Fracture Rate in 65 Osteogenesis Imperfecta PatientsTurkish Archives of Pediatrics
   2023
8. 8
   Congenital Heart Defects and Outcome in a Large Cohort of Down Syndrome: A Single-Center Experience from TurkeyTurkish Archives of Pediatrics
   2023
9. 9
   Biallelic frameshift variants inPHLDB1cause mild-type osteogenesis imperfecta with regressive spondylometaphyseal changesJournal of Medical Genetics
   2023
10. 10
    Phenotypic and Molecular Spectrum of a Turkish Cohort with Hereditary Multiple OsteochondromasTurkish Archives of Pediatrics
    2023

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