Browsing by Author "Sözügüzel, Mavi Deniz"
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Female gender specific association of the Reelin (RELN) gene rs7341475 variant with schizophrenia
Sözügüzel, Mavi Deniz; Sazcı, Ali; Yıldız, Mustafa (Springer, 2019)RELN gene encodes a large extracellular matrix protein which is critical for neuronal migration, cell positioning and cell-cell interactions. It also controls the synaptic plasticity of neurons for initiation and maintenance ... -
The investigation of genetic etiology in familial cases with congenital hypothyroidism
Kardelen Al, Aslı Derya; Işık, Fatma Büşra; Karakılıç Özturan, Esin; Sözügüzel, Mavi Deniz; Öztürk, Ayşe Pınar; Poyrazoğlu, Şükran; Parlayan, Cüneyd; Cangül, Hakan; Baş, Firdevs; Darendeliler, Feyza (Karger, 2019)Background: Congenital hypothyroidism(CH) is the most common neonatal endocrinological disorder in the world. Although most of the CH is sporadic, some genetic defects are responsible from the etiology. The aim of this ... -
A novel missense KCNJ2 gene mutation associated with andersen tawil syndrome
Sözügüzel, Mavi Deniz; Işık, Fatma Büşra; Genç, Nimetullah Mete; Çaralan, E. F.; Doğru, Zübeyir; Akdeniz, Coşkun; Cangül, Hakan (Nature Publishing Group, 2019)...
