Browsing by Author Karaer, Kadri

Showing results 1 to 14 of 14
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 
2022Early onset disease, anarthria, areflexia, and dystonia can be the distinctive features of SPG64, a very rare form of hereditary spastic paraplegiasOlmez, Akgun; Cetin, Gokhan Ozan ; Karaer, Kadri 
2024Ektodermal gelişim bozukluğu olgularında genotip ve fenotip özelliklerinin incelenmesiCoşkun, Mert
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 
2022Investigating consanguineous families from Turkey to identify autosomal recessive neurodevelopmental disordersGumuslu, Esen; Guemues, Evren; Oz, Ozlem; Ozkan, Melis; Karaer, Kadri ; Ekici, Arif; Yildiz, Edibe Pembegul; Aydinli, Nur; Reis, Andre
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 
2025Multi-omics analysis of placental metabolomics and transcriptomics datasets reveals comprehensive insights into the pathophysiology of preeclampsiaMumcu, Akin; Saridogan, Erdinc; Duz, Senem Arda; Tuncay, Gorkem; Erdogan, Ali; Karaer, Kadri ; Dogan, Berat
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 
2024Presentation of Pallister-Hall-Like Syndrome in a Girl with a Homozygous Rare Variant in the SMO GeneTan, Mertcan ; Turgut, Musa ; Ozdemir, Ozmert Muhammed Ali ; Karaer, Kadri 
2022Targeted next-generation sequencing (NGS) analysis of mutations in nonsyndromic tooth agenesis candidate genes Analysis of a Turkish cohortKeskin, Gul; Karaer, Kadri ; Ucar Gundogar, Zubeyde
2022Two novel variants in SCARF2 gene underlie van den Ende-Gupta syndromeKaraer, Derya ; Karaer, Kadri