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"Milky" bowel and malrotation. Surgery 2017;162(2):468-469.
. The missense variation Q705K in CIAS1/NALP3/NLRP3 gene and an NLRP1 haplotype are associated with celiac disease. Am J Gastroenterol 2011;106(3):539-44.
. . Macrocephaly and palmoplantar pitting. Arch Dis Child 2016;
. Management of the adnexal mass. Obstet Gynecol 2011;118(4):956; author reply 956-7.
. Modeling the effect of 3 missense AGXT mutations on dimerization of the AGT enzyme in primary hyperoxaluria type 1. J Nephrol 2010;23(6):667-76.
. . Mannose binding lectin gene (MBL2) functional polymorphisms are associated with systemic lupus erythematosus in southern Brazilians. Hum Immunol 2011;72(6):516-21.
. Molecular basis of inherited thrombocytopenias. Clin Genet 2015;
. MYH9 gene mutations associated with bleeding. Platelets 2017;28(3):312-315.
. MYH9-related disease: Report on five German families and description of a novel mutation. Ann Hematol 2010;89(10):1057-9.
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