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

The Experience of a Tertiary Reference Center in Central Anatolia with Children Carrying ZAP-70 Variants, Including Two Novel Variants

安纳托利亚中部一家三级参考中心在携带 ZAP-70 变异体(包括两种新变异体)的儿童中的经验

Göktaş, Serdar; Kalaycik Sengul, Ozlem; Erdem, Şerife; Eke Güngör, Hatice; Babayeva, Royala; Bilgic-Eltan, Sevgi; Güzel, Turan; Dörterler, Koray; Rohlfs, Meino; Özcan, Alper; Yilmaz, Ebru; Karakukcu, Musa; Akar, Haluk Himmet; Karakoc-Aydiner, Elif; Özen, Ahmet; Elmas, Muhsin; Patiroğlu, Türkan; Doğan, Muhammet E; Baş, Hasan; Taylor, Naomi; Baris, Safa; Klein, Christoph; Eken, Ahmet; Ünal, Ekrem

Marked overlap of four genetic syndromes with dyskeratosis congenita confounds clinical diagnosis.

四种遗传综合征与先天性角化不良症有明显的重叠,这给临床诊断带来了困难

Walne Amanda J, Collopy Laura, Cardoso Shirleny, Ellison Alicia, Plagnol Vincent, Albayrak Canan, Albayrak Davut, Kilic Sara Sebnem, Patıroglu Turkan, Akar Haluk, Godfrey Keith, Carter Tina, Marafie Makia, Vora Ajay, Sundin Mikael, Vulliamy Thomas, Tummala Hemanth, Dokal Inderjeet