日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Impact of deep phenotyping: high diagnostic yield in a diverse pediatric population of 172 patients through clinical whole-genome sequencing at a single center

深度表型分析的影响:通过单中心临床全基因组测序,在172例不同儿科患者群体中实现了高诊断率

Akgun-Dogan, Ozlem; Tuc Bengur, Ecenur; Ay, Beril; Ozkose, Gulsah Sebnem; Kar, Emre; Bengur, Fuat Baris; Bulut, Aybike S; Yigit, Ayca; Aydin, Eylul; Esen, Fatma Nisa; Ozdemir, Ozkan; Yesilyurt, Ahmet; Alanay, Yasemin

Rapid genome sequencing for critically ill infants: an inaugural pilot study from Turkey

针对危重婴儿的快速基因组测序:来自土耳其的一项初步试点研究

Guner Yilmaz, Bengisu; Akgun-Dogan, Ozlem; Ozdemir, Ozkan; Yuksel, Bayram; Hatirnaz Ng, Ozden; Bilguvar, Kaya; Ay, Beril; Ozkose, Gulsah Sebnem; Aydin, Eylul; Yigit, Ayca; Bulut, Aybike; Esen, Fatma Nisa; Beken, Serdar; Aktas, Selma; Demirel, Atalay; Arcagok, Baran Cengiz; Kazanci, Ebru; Bingol, İbrahim; Umur, Ozge; Sik, Guntulu; Isik, Ugur; Ersoy, Melike; Korkmaz, Ayse; Citak, Agop; Mardinoglu, Adil; Ozbek, Ugur; Alanay, Yasemin