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Journal Article
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
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
Velmans, Clara ORCID: 0000-0002-3352-1035, O'Donnell-Luria, Anne H., Argilli, Emanuela, Tran Mau-them, Frederic, Vitobello, Antonio ORCID: 0000-0003-3717-8374, Chan, Marcus C. Y., Fung, Jasmine Lee-Fong, Rech, Megan, Abicht, Angela, Aubert Mucca, Marion, Carmichael, Jason, Chassaing, Nicolas, Clark, Robin, Coubes, Christine, Denomme-Pichon, Anne-Sophie ORCID: 0000-0002-8986-8222, de Dios, John Karl ORCID: 0000-0001-9125-0117, England, Eleina, Funalot, Benoit, Gerard, Marion, Joseph, Maries, Kennedy, Colleen, Kumps, Camille, Willems, Marjolaine, van de Laar, Ingrid M. B. H., Aarts-Tesselaar, Coranne, van Slegtenhorst, Marjon, Lehalle, Daphne, Leppig, Kathleen, Lessmeier, Lennart, Pais, Lynn S., Paterson, Heather, Ramanathan, Subhadra, Rodan, Lance H., Superti-Furga, Andrea, Chung, Brian H. Y., Sherr, Elliott, Netzer, Christian, Schaaf, Christian P. and Erger, Florian
.
O'Donnell-Luria-Rodan syndrome: description of a second multinational cohort and refinement of the phenotypic spectrum.
J. Med. Genet..
LONDON:
BMJ PUBLISHING GROUP.
ISSN 1468-6244