Yazar "Ertürk, Biray" için listeleme
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Clinical and genetic spectrum from a prototype of ciliopathy: Joubert syndrome
Aksu Uzunhan, Tuğçe; Ertürk, Biray; Aydın, Kürşad; Ayaz, Akif; Altunoğlu, Umut; Yarar, Murat Hakkı; Gezdirici, Alper; İçağasıoğlu, Dilara Füsun; Gökpınar İli, Ezgi; Uyanık, Bülent; Eser, Metin; Kutbay, Yaşar Bekir; Topçu, Yasemin; Kılıç, Betül; Bektaş, Gonca; Arduç Akçay, Ayfer; Ekici, Barış; Chousein, Amet; Avcı, Şahin; Yüksel, Atıl; Kayserili, Hülya (Elsevier B.V., 2023)Objective: Joubert syndrome is a neurodevelopmental disorder with a distinctive hindbrain malformation called molar tooth sign, causing motor and cognitive impairments. More than 40 genes have been associated with Joubert ... -
Evaluation of laboratory findings, clinical features and rates of diagnosis of patients admitted to outpatient clinic of pediatric neurology with neuromuscular manifestations
Aksu Uzunhan, Tuğçe; Ertürk, Biray; Özyavuz Çubuk, Pelin; Uyanık, Bülent; Ayaz, Akif; Akan, Onur; Özdemir, Taha Reşid (Dr. Behcet Uz Pediatric Hospital, 2020)Objective: Our aim is to evaluate how many patients with neuromuscular manifestations get a definite diagnosis and which methods are used in the pathway to diagnosis as well as to assess patient characteristics.Methods: ...