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2021
Netzer, Christian, Velmans, Clara, Erger, Florian ORCID: 0000-0002-2768-1702 and Schreml, Julia (2021). Carrier testing for autosomal recessive disorders: a look at current practice in Germany. Med. Genet., 33 (1). S. 13 - 20. BERLIN: WALTER DE GRUYTER GMBH. ISSN 1863-5490
2020
Marbach, Felix, Elgizouli, Magdeldin, Rech, Megan ORCID: 0000-0002-3037-2521, Beygo, Jasmin, Erger, Florian, Velmans, Clara, Stumpel, Constance T. R. M., Stegmann, Alexander P. A., Beck-Wodl, Stefanie, Gillessen-Kaesbach, Gabriele, Horsthemke, Bernhard, Schaaf, Christian P. and Kuechler, Alma (2020). The adult phenotype of Schaaf-Yang syndrome. Orphanet J. Rare Dis., 15 (1). LONDON: BMC. ISSN 1750-1172