European Journal of Medical Genetics

Journal Abbreviation: EUR J MED GENET
ISSN: 1769-7212
Publisher: Elsevier

Publications (12)

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Do the exome: A case of Williams-Beuren syndrome with severe epilepsy due to a truncating de novo variant in GABRA1 (2016) Popp B, Trollmann R, Büttner C, Caliebe A, Thiel C, Hüffmeier U, Reis A, Zweier C Journal article Mutational analysis of the human MESP1 gene in patients with congenital heart disease reveals a highly variable sequence in exon 1 (2013) Lahm H, Deutsch MA, Dressen M, Doppler S, Werner A, Hoerer J, Cleuziou J, et al. Journal article
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