Mutations in SYNGAP1 Cause Intellectual Disability, Autism, and a Specific Form of Epilepsy by Inducing Haploinsufficiency

Martin H Berryer, Fadi F Hamdan, Laura L Klitten, Rikke S Møller, Lionel Carmant, Jeremy Schwartzentruber, Lysanne Patry, Sylvia Dobrzeniecka, Daniel Rochefort, Mathilde Neugnot-Cerioli, Jean-Claude Lacaille, Zhiyv Niu, Christine M Eng, Yaping Yang, Sylvain Palardy, Céline Belhumeur, Guy A Rouleau, Niels Tommerup, Ladonna Immken, Miriam H BeauchampGayle Simpson Patel, Jacek Majewski, Mark A Tarnopolsky, Klaus Scheffzek, Helle Hjalgrim, Jacques L Michaud, Graziella Di Cristo

115 Citationer (Scopus)

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Medicin og biovidenskab