Yazar "Çebi, Alper Han" için listeleme
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Autosomal recessive primary microcephaly (MCPH) and novel pathogenic variants in ASPM and WDR62 genes
Bolat, Hilmi; Sağer, Safiye Güneş; Türkyılmaz, Ayberk; Çebi, Alper Han; Akın, Yasemin; Onay, Hüseyin; Özkınay, Ferda; Bolat, Gül Ünsel (Karger, 2022)Introduction: Autosomal recessive primary microcephaly (MCPH) is a disorder characterized by congenital microcephaly and intellectual disability without extra-central nervous system malformation. MCPH is a disease with ... -
Genetic analysis of BCR-ABL negative chronic myeloproliferative diseases at initial diagnosis and their clinical effects
Uysal, Ayşe; Altıner, Şule; Uysal, Serhat; Çebi, Alper Han (Cukurova Univ, 2020)Purpose: The aim of this study to discuss frequency and clinical significance of JAK2-V617F, Calreticulin (CALR type 1 and type-2) and MPL-W515K/L mutations in patients at initial diagnosis of bcr-abl negative chronic ...
