Başlık için Çocuk Sağlığı Enstitüsü Makale Koleksiyonu listeleme

Toplam kayıt 11, listelenen: 10-11

    • Prognostic Significance of Notch1 and Fbxw7 Mutations in Pediatric T-All 

      Erbilgin, Yücel; Sayitoğlu, Müge; Hatırnaz, Özden; Doğru, Ömer; Akçay, Arzu; Tüysüz, Gülen; Celkan, Tiraje; Aydoğan, Gönül; Şalcıoğlu, Zafer; Timur, Çetin; Yüksek Soycan, Lebriz; Üre, Ümit; Anak, Sema; Ağaoğlu, Leyla; Devecioğlu, Ömer; Yıldız, İnci; Özbek, Uğur (Hindawi Ltd, 2010)
      The NOTCH signaling pathway plays important role in the development of multicellular organisms, as it regulates cell proliferation, survival, and differentiation. In adults, it is essential for the T- or B-lymphocyte lineage ...

    • Retinitis Pigmentosa Caused By Mutations in the Ciliary MAK Gene is Relatively Mild and is not Associated with Apparent Extra-Ocular Features 

      van Huet, Ramon A. C.; Siemiatkowska, Anna M.; Ozgul, Riza K.; Yucel, Didem; Hoyng, Carel B.; Banin, Eyal; Blumenfeld, Anat; Rotenstreich, Ygal; Riemslag, Frans C. C.; den Hollander, Anneke I.; Theelen, Thomas; Collin, Rob W. J.; van den Born, L. Ingeborgh; Klevering, B. Jeroen (Wiley, 2015)
      Purpose: Defects in MAK, encoding a protein localized to the photoreceptor connecting cilium, have recently been associated with autosomal recessive retinitis pigmentosa (RP). The aim of this study is to describe our ...