Browsing by Author Karaer, Derya

Showing results 1 to 8 of 8
Issue DateTitleAuthor(s)
2024A case report of Hennekam syndrome with a mutation in the CCBE1 geneDurak, T. ; Karaer, D. ; Karaer, K. 
2024Coffin-lowry syndrome: two novel variants in rps6ka3 geneKaraer, Derya ; Durak, Taner ; Karaer, Kadri 
2023Evaluation of the frequency of MEFV gene variants in patients with a pre-diagnosis of Familial Mediterranean Fever (FMF) in southeast TürkiyeKaraer, Derya ; Şahinoğlu, Bahtiyar; Gürler, Abdullah İhsan; Karaer, Kadri 
2021İnfertil erkek hastalarda karyotip analizi ve Y kromozom mikrodelesyon analiz sonuçlarıKaraer, Derya ; Şahinoğlu, Bahtiyar; Gürler, Abdullah İhsan; Karaer, Kadri 
2023The Molecular Spectrum of Beta Thalassemia Mutations in Southeastern, TurkeyKaraer, Derya ; Şahinoğlu, Bahtiyar; Şahinoğlu, Esra Pekpak; Gürler, Abdullah I.; Kirat, Emre; Karaer, Kadri 
2022Neurodevelopmental disorder with microcephaly, ataxia, and seizures syndrome: expansion of the clinical spectrumKaraer K. ; Karaer D. ; Yüksel Z.; Işikay S.
2024Noonan syndrome: molecular and clinical findings in individuals with PTPN11 pathogenic variantsKaraer, Derya ; Durak, Taner ; Karaer, Kadri 
2022Two novel variants in SCARF2 gene underlie van den Ende-Gupta syndromeKaraer, Derya ; Karaer, Kadri