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A cross-sectional single-centre study on the spectrum of Pompe disease, German patients: molecular analysis of the GAA gene, manifestation and genotype-phenotype correlations

by Herzog Andreas, Hartung Ralf, Reuser Arnold J J, Hermanns Pia, Runz Heiko, Karabul Nesrin, Gökce Seyfullah, Pohlenz Joachim, Kampmann Christoph, Lampe Christina, Beck Michael, Mengel Eugen
Published 2012-06-01

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2

Systematic Cell-Based Phenotyping of Missense Alleles Empowers Rare Variant Association Studies: A Case for LDLR and Myocardial Infarction

by Thormaehlen, Aenne S., Schuberth, Christian, Won, Hong-Hee, Blattmann, Peter, Joggerst-Thomalla, Brigitte, Theiss, Susanne, Asselta, Rosanna, Duga, Stefano, Merlini, Piera Angelica, Ardissino, Diego, Gabriel, Stacey B., Rader, Daniel J., Peloso, Gina M., Pepperkok, Rainer, Kathiresan, Sekar, Runz, Heiko, Lander, Eric Steven
Published 2015

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