نتایج جستجو برای: smarcal1
تعداد نتایج: 96 فیلتر نتایج به سال:
Journal:
:BMC Genomics
2009
Journal:
:Pediatric Research
2009
Journal:
:FEBS Journal
2015
Journal:
:Journal of Cell Science
2020
Journal:
:Developmental Biology
2010
Journal:
:Cancer Research
2019
Journal:
:Journal of Neuropathology & Experimental Neurology
2008
Journal:
:Scientific Reports
2015
Podocytic infolding in Schimke immuno-osseous dysplasia with novel SMARCAL1 mutations: a case report
Journal:
:BMC Nephrology
2020
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...
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