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JOURNAL OF CLINICAL INVESTIGATION, ISSN 0021-9738, 12/2013, Volume 123, Issue 12, pp. 5179 - 5189
Identification of single-gene causes of steroid-resistant nephrotic syndrome (SRNS) has furthered the understanding of the pathogenesis of this disease. Here,... 
MEDICINE, RESEARCH & EXPERIMENTAL | COQ2 | KIDNEY-DISEASES | CEREBELLAR-ATAXIA | NEPHROCYTES | CILIOPATHY | COENZYME Q DEFICIENCY | COLLAPSING GLOMERULOPATHY | SACCHAROMYCES-CEREVISIAE | NEPHROPATHY | UBIQUINONE DEFICIENCY
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The American Journal of Human Genetics, ISSN 0002-9297, 11/2011, Volume 89, Issue 5, pp. 634 - 643
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The American Journal of Human Genetics, ISSN 0002-9297, 05/2012, Volume 90, Issue 5, pp. 864 - 870
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