Yazar "Özyavuz Çubuk, Pelin" için listeleme
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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: ... -
Smith-magenis syndrome: Clues in the clinic
Akkuş, Nejmiye; Kılıç, Betül; Özyavuz Çubuk, Pelin (Georg Thieme Verlag KG, 2020)As a multisystemic congenital mental retardation disorder/anomaly, Smith-Magenis syndrome (SMS) is commonly aroused from de novo interstitial deletion of the 17p11.2 chromosome. The deletion of this chromosome results with ...