De novo variants in PAK1 lead to intellectual disability with macrocephaly and seizures (Brain (2019))

Susanne Horn, Margaret Au, Lina Basel-Salmon, Pinar Bayrak-Toydemir, Alexander Chapin, Lior Cohen, Mariet W. Elting, John M. Graham, Claudia Gonzaga-Jauregui, Osnat Konen, Max Holzer, Johannes Lemke, Christine E. Miller, Linda K. Rey, Nicole I. Wolf, Marjan M. Weiss, Quinten Waisfisz, Ghayda M. Mirzaa, Dagmar Wieczorek, Heinrich StichtRami Abou Jamra

Research output: Contribution to journal › Article › peer-review

34 Scopus citations

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Biochemistry, Genetics and Molecular Biology