Search Results - Kalscheuer, Vera M.

Novel pathogenic EIF2S3 missense variants causing clinically variable MEHMO syndrome with impaired eIF2γ translational function, and literature review by Kotzaeridou, Urania (Author) , Young-Baird, Sara K. (Author) , Suckow, Vanessa (Author) , Thornburg, Alexis G. (Author) , Wagner, Matias (Author) , Harting, Inga (Author) , Christ, Stine (Author) , Strom, Tim (Author) , Dever, Thomas E. (Author) , Kalscheuer, Vera M. (Author) ,

• Verlag, kostenfrei, Volltext
• Verlag, kostenfrei, Volltext

Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes by Endele, Sabine (Author) , Rosenberger, Georg (Author) , Geider, Kirsten (Author) , Popp, Bernt (Author) , Tamer, Ceyhun (Author) , Stefanova, Irina (Author) , Milh, Mathieu (Author) , Kortüm, Fanny (Author) , Fritsch, Angela (Author) , Pientka, Friederike K. (Author) , Hellenbroich, Yorck (Author) , Kalscheuer, Vera M. (Author) , Kohlhase, Jürgen (Author) , Moog, Ute (Author) , Rappold, Gudrun (Author) , Rauch, Anita (Author) , Ropers, Hans-Hilger (Author) , von Spiczak, Sarah (Author) , Tönnies, Holger (Author) , Villeneuve, Nathalie (Author) , Villard, Laurent (Author) , Zabel, Bernhard (Author) , Zenker, Martin (Author) , Laube, Bodo (Author) , Reis, André (Author) , Wieczorek, Dagmar (Author) , Van Maldergem, Lionel (Author) , Kutsche, Kerstin (Author) ,

• Verlag, lizenzpflichtig, Volltext
• Verlag, lizenzpflichtig, Volltext

Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes

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