Browsing WoS İndeksli Yayınlar Koleksiyonu by Author "Ocak, Zeynep"
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Developmental genomics of limb malformations: Allelic series in association with gene dosage effects contribute to the clinical variability
Duan, Ruizhi; Hijazi, Hadia; Gulec, Elif Yilmaz; Eker, Hatice Kocak; Costa, Silvia R.; Sahin, Yavuz; Ocak, Zeynep (ELSEVIER, 2022)Genetic heterogeneity, reduced penetrance, and variable expressivity, the latter including asymmetric body axis plane presentations, have all been described in families with congenital limb malformations (CLMs). Interfamilial ... -
Left ventricular systolic dysfunction related to adrenal ınsufficiency in a case due to autoimmune polyendocrine syndrome type 1 with a novel variant
Ozer, Yavuz; Turan, Hande; Cakir, Aydilek Dagdeviren; Gokalp, Selman; Ocak, Zeynep; Ercan, Oya; Evliyaoglu, Olcay (KARGER, 2022)Introduction: Primary adrenal insufficiency associated with cardiomyopathy has been rarely reported in children. We report a case of left ventricular (LV) systolic dysfunction related to adrenal insufficiency with autoimmune ... -
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 ...
