Güven Toksoy

Akademik Profiller

1. 1
   Investigation of oral health findings and genotype correlations in osteogenesis imperfectaOdontology
   2025
2. 2
   A Rare Inherited Bone Marrow Failure Syndrome Disclosed by Reanalysis of the Exome Data of a Patient Evaluated for Cytopenia and Dysmorphic FeaturesJournal of Pediatric Hematology/Oncology
   2024
3. 3
   Association of Antenatal Evaluations with Postmortem and Genetic Findings in the Series of Fetal Osteogenesis ImperfectaFetal Diagnosis and Therapy
   2024
4. 4
   Clinical and molecular characteristics of 26 fetuses with lethal multiple congenital contracturesClinical Genetics
   2024
5. 5
   HETEROPLASMY-ASSOCIATED MITOCHONDRIAL DNA VARIANTS IN HUMAN BLOOD AND SKELETAL MUSCLE SAMPLES,İNSAN KAN VE İSKELET KASI ÖRNEKLERİNDE HETEROPLAZMİYLE İLİŞKİLİ MİTOKONDRİYAL DNA VARYANTLARIIstanbul Tip Fakultesi Dergisi
   2024
6. 6
   A Novel RNPC3 Gene Variant Expands the Phenotype in Patients with Congenital Hypopituitarism and NeuropathyHormone Research in Paediatrics
   2023
7. 7
   Clinical and Molecular Findings of Nine Cases with Tay-Sachs Disease From Türkiye,Tay-Sachs Hastalığı Olan Türkiye’den Dokuz Olgunun Klinik ve Moleküler BulgularıMedical Journal of Bakirkoy
   2023
8. 8
   Clinical and bi-genomic DNA findings of patients suspected to have mitochondrial diseasesFrontiers in Genetics
   2023
9. 9
   Novel GALT variations and genetic spectrum in Turkish population with the correlation of genotype and phenotypeAnnals of Human Genetics
   2023
10. 10
    PROKR2 Mutations in Patients with Short Stature Who Have Isolated Growth Hormone Deficiency and Multiple Pituitary Hormone DeficiencyJCRPE Journal of Clinical Research in Pediatric Endocrinology
    2023

Yayın listesi ORCID kaydından alındı.