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How to find us A.M. Szperl, PhD

Publications

Evaluation of European coeliac disease risk variants in a north Indian population

Fine mapping of the celiac disease-associated LPP locus reveals a potential functional variant

Improving coeliac disease risk prediction by testing non-HLA variants additional to HLA variants

MEFV mutations affecting pyrin amino acid 577 cause autosomal dominant autoinflammatory disease

Mapping complex and monogenetic disorders: methods and applications

Dense genotyping identifies and localizes multiple common and rare variant association signals in celiac disease

Exome sequencing in a family segregating for celiac disease

Functional characterization of mutations in the myosin Vb gene associated with microvillus inclusion disease

Functional Polymorphism in IL12B Promoter Site Is Associated with Ulcerative Colitis

Apical Recycling Endosome-Associated Myosin Vb Is Mutated in Microvillus Inclusion Disease and Is Involved in Intestinal Brush Border Development

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