Browsing WoS İndeksli Yayınlar Koleksiyonu by Author "Tamay, Zeynep"

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Novel frameshift autosomal recessive loss-of-function mutation in SMARCD2 encoding a chromatin remodeling factor mediates granulopoiesis

Yucel, Esra Ozek; Karakus, Ibrahim Serhat; Krolo, Ana; Kiykim, Ayca; Heredia, Raul Jimenez; Tamay, Zeynep; Erol Cipe, Funda; Karakoc-Aydiner, Elif; Ozen, Ahmet; Karaman, Serap; Boztug, Kaan; Baris, Safa (2021)

Purpose: Recently, a new form of congenital neutropenia that is caused by germline biallelic loss-of-function mutations in the SMARCD2 gene was described in four patients. Given the rarity of the condition, the clinical ...