A Novel ECM1 Splice Site Mutation in Lipoid Proteinosis: Case Report plus Review of the Literature

Por Rey, Linda K., Kohlhase, Jürgen, Möllenhoff, Katrin, Dekomien, Gabriele, Epplen, Jörg T., Hoffjan, Sabine
Publicado no Mol Syndromol (2016)

Mutations in SMARCB1 and in other Coffin–Siris syndrome genes lead to various brain midline defects

Por Filatova, Alina, Rey, Linda K., Lechler, Marion B., Schaper, Jörg, Hempel, Maja, Posmyk, Renata, Szczaluba, Krzysztof, Santen, Gijs W. E., Wieczorek, Dagmar, Nuber, Ulrike A.
Publicado no Nat Commun (2019)

De novo variants in PAK1 lead to intellectual disability with macrocephaly and seizures

Por Horn, Susanne, Au, Margaret, Basel-Salmon, Lina, Bayrak-Toydemir, Pinar, Chapin, Alexander, Cohen, Lior, Elting, Mariet W, Graham, John M, Gonzaga-Jauregui, Claudia, Konen, Osnat, Holzer, Max, Lemke, Johannes, Miller, Christine E, Rey, Linda K, Wolf, Nicole I, Weiss, Marjan M, Waisfisz, Quinten, Mirzaa, Ghayda M, Wieczorek, Dagmar, Sticht, Heinrich, Abou Jamra, Rami
Publicado no Brain (2019)