Browsing by Author "Ocak, Zeynep"

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The relationship between genotype and phenotype in primary ciliary dyskinesia patients

Kilinc, Ayse Ayzit; Cebi, Memnune Nur; Ocak, Zeynep; Cokugras, Haluk Cezmi (KARE PUBL, 2021)

Objectives: Primary ciliary dyskinesia (PCD) is a chronic genetic disease that affects the respiratory tract, characterized by different clinical and laboratory features. It has a very difficult diagnosis, and high morbidity. ...
Two twin sister with cohen syndrome and hirsutism: a case report

Ozdemir, F.; Yigin, A. Kalayci; Ocak, Zeynep; Seven, M. (SPRINGERNATURE, 2020)

Introduction: Cohen syndrome is a genetic disease characterized by a rare neurodevelopmental delay, microcephaly and hypotonia. While phenotypic findings may differ among patients, it may appear normal in the neonatal ...