Two Patients Diagnosed as Succinate Dehydrogenase Deficiency: Case Report
Ürey, Burcu Civelek, Ceylan, Ahmet Cevdet, Çavdarlı, Büşranur, Çıtak Kurt, Ayşegül Neşe, Köylü, Oya Kıreker, Yürek, Burak, Kasapkara, Çiğdem Seher
Published in Molecular syndromology (01.04.2023)
Published in Molecular syndromology (01.04.2023)
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Journal Article
Hereditary spastic paraplegia type 35 in a Turkish girl with fatty acid hydroxylase-associated neurodegeneration
Engin Erdal, Ayşenur, Yürek, Burak, Kıreker Köylü, Oya, Ceylan, Ahmet Cevdet, Çıtak Kurt, Ayşegül Neşe, Kasapkara, Çiğdem Seher
Published in Journal of Pediatric Endocrinology and Metabolism (25.03.2024)
Published in Journal of Pediatric Endocrinology and Metabolism (25.03.2024)
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Journal Article
Laboratory and Genotype Relationship of Patients with SDHA-Related Mitochondrial Disease
Civelek Ürey, Burcu, Ceylan, Ahmet Cevdet, Cavdarlı, Büşranur, Çıtak Kurt, Ayşegül Neşe, Kıreker Köylü, Oya, Yürek, Burak, Kasapkara, Çiğdem Seher
Published in Molecular syndromology (01.12.2023)
Published in Molecular syndromology (01.12.2023)
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Journal Article
SLC35A2-CDG: novel variants with two ends of the spectrum
Kasapkara, Çiğdem Seher, Ceylan, Ahmet Cevdet, Özyürek, Hamit, Karakaya Molla, Gülhan, Civelek Ürey, Burcu, Kıreker Köylü, Oya, Küçükçongar Yavaş, Aynur, Sönmez, Fatma Müjgan
Published in Journal of Pediatric Endocrinology & Metabolism (27.09.2021)
Published in Journal of Pediatric Endocrinology & Metabolism (27.09.2021)
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Journal Article
Evaluation of blood neuron specific enolase and S-100 beta protein levels in acute mercury toxicity
Güngör, Olcay, Köylü, Oya Kıreker, Dalkıran, Tahir, Kırık, Serkan, Tepe, Elif, Cevizli, Derya, KurutaÅ, Ergül Belge, Dilber, Cengiz
Published in Trace elements and electrolytes (01.01.2018)
Published in Trace elements and electrolytes (01.01.2018)
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Journal Article
Homozygous SLC20A2 mutations cause congenital CMV infection-like phenotype
Ceylan, Ahmet Cevdet, Kireker Köylü, Oya, Özyürek, Hamit, Özaydin, Eda, Yön, Mehmet İlker, Kasapkara, Çiğdem Seher
Published in Acta neurologica Belgica (01.10.2023)
Published in Acta neurologica Belgica (01.10.2023)
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Journal Article
Hereditary spastic paraplegia type 35 in a Turkish girl with fatty acid hydroxylase-associated neurodegeneration
Engin Erdal, Ayşenur, Yürek, Burak, Kıreker Köylü, Oya, Ceylan, Ahmet Cevdet, Çıtak Kurt, Ayşegül Neşe, Kasapkara, Çiğdem Seher
Published in Journal of pediatric endocrinology & metabolism : JPEM (25.03.2024)
Published in Journal of pediatric endocrinology & metabolism : JPEM (25.03.2024)
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Report
SLC35A2-CDG: novel variants with two ends of the spectrum
Kasapkara, Çiğdem Seher, Ceylan, Ahmet Cevdet, Özyürek, Hamit, Karakaya Molla, Gülhan, Civelek Ürey, Burcu, Kıreker Köylü, Oya, Küçükçongar Yavaş, Aynur, Sönmez, Fatma Müjgan
Published in Journal of pediatric endocrinology & metabolism : JPEM (27.09.2021)
Published in Journal of pediatric endocrinology & metabolism : JPEM (27.09.2021)
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Report
Metabolik Hastalıklarda Göz Bulguları
KIREKER KÖYLÜ, Oya, KASAPKARA, Çiğdem Seher
Published in Turkish Journal of Pediatric Disease (18.05.2023)
Published in Turkish Journal of Pediatric Disease (18.05.2023)
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Journal Article
Heart Diseases in Patients with Organic Acidemia
ÖZBEY, Sümeyra Zeynep, GÜNDÜZ, Mehmet, ÇETİN, İbrahim İlker, CEYLAN, Ahmet Cevdet, KILIÇ, Esra, ÜNAL, Özlem, KUCUKCONGAR, Aynur, KIREKER KÖYLÜ, Oya, YÜREK, Burak, CİVELEK ÜREY, Burcu, BİLGİNER GÜRBÜZ, Berrak, KASAPKARA, Çiğdem Seher
Published in Turkish Journal of Pediatric Disease (25.12.2023)
Published in Turkish Journal of Pediatric Disease (25.12.2023)
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Journal Article