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Journal Article
Marbach, F., Elgizouli, M., Rech, M., Beygo, J., Erger, F., Velmans, C., Stumpel, C. T. R. M., Stegmann, A. P. A., Beck-Woedl, S., Gillessen-Kaesbach, G., Horsthemke, B., Schaaf, C. P. and Kuechler, A. (2020). The adult phenotype of Schaaf-Yang syndrome. Eur. J. Hum. Genet., 28 (SUPPL 1). S. 360 - 361. LONDON: SPRINGERNATURE. ISSN 1476-5438
Velmans, C., O'Donnell-Luria, A., Argilli, E., Tran-Mau-Them, F., Vitobello, A., Rech, M., Abicht, A., Aubert-Mucca, M., Carmichael, J., Chassaing, N., Clark, R., Coubes, C., de Dios, K., Funalot, B., Joseph, M., Kenendy, C., van de Laar, I., Lehalle, D., Leppig, K., Lessmeier, L., Pais, L., Paterson, H., Ramanathan, S., Sherr, E., Netzer, C., Schaaf, C. and Erger, F. (2020). Refining the phenotypic & mutational spectrum in a multinational cohort of O'Donnell-Luria-Rodan Syndrome. Eur. J. Hum. Genet., 28 (SUPPL 1). S. 347 - 349. LONDON: SPRINGERNATURE. ISSN 1476-5438