نتایج جستجو برای: smarcal1

تعداد نتایج: 96  

2011
Jakub Zieg Anna Krepelova Alireza Baradaran-Heravi Elena Levtchenko Encarna Guillén-Navarro Miroslava Balascakova Martina Sukova Tomas Seeman Jiri Dusek Nadezda Simankova Tomas Rosik Sylva Skalova Jan Lebl Cornelius F Boerkoel

Autoimmunity is often observed among individuals with primary immune deficiencies; however, the frequency and role of autoimmunity in Schimke immuno-osseous dysplasia (SIOD) has not been fully assessed. SIOD, which is caused by mutations of SMARCAL1, is a rare autosomal recessive disease with its prominent features being skeletal dysplasia, T cell deficiency, and renal failure. We present a chi...

نمودار تعداد نتایج جستجو در هر سال

با کلیک روی نمودار نتایج را به سال انتشار فیلتر کنید