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Journal Article
Ufartes, Roser, Berger, Hanna, Till, Katharina, Salinas, Gabriela, Sturm, Marc 
ORCID: 0000-0002-6552-8362, Altmueller, Janine, Nuernberg, Peter, Thiele, Holger ORCID: 0000-0002-0169-998X, Funke, Rudolf, Apeshiotis, Neophytos, Langen, Hendrik, Wollnik, Bernd, Borchers, Annette and Pauli, Silke
(2020).
De novo mutations in FBRSL1 cause a novel recognizable malformation and intellectual disability syndrome.
Hum. Genet., 139 (11).
S. 1363 - 1380.
NEW YORK:
SPRINGER.
ISSN 1432-1203