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Number of items: 3.

Journal Article

Arjona, Francisco J., de Baaij, Jeroen H. F., Schlingmann, Karl P., Lameris, Anke L. L., van Wijk, Erwin, Flik, Gert ORCID: 0000-0001-9285-7957, Regele, Sabrina, Korenke, G. Christoph, Neophytou, Birgit, Rust, Stephan, Reintjes, Nadine, Konrad, Martin, Bindels, Rene J. M. and Hoenderop, Joost G. J. (2014). CNNM2 Mutations Cause Impaired Brain Development and Seizures in Patients with. PLoS Genet., 10 (4). SAN FRANCISCO: PUBLIC LIBRARY SCIENCE. ISSN 1553-7404

Laghmani, Kamel ORCID: 0000-0002-2167-5766, Beck, Bodo B., Yang, Sung-Sen, Seaayfan, Elie ORCID: 0000-0003-4839-9834, Wenzel, Andrea, Reusch, Bjorn, Vitzthum, Helga, Priem, Dario ORCID: 0000-0002-2527-1101, Demaretz, Sylvie, Bergmann, Klasien, Duin, Leonie K., Goebel, Heike, Mache, Christoph, Thiele, Holger, Bartram, Malte P., Dombret, Carlos, Altmueller, Janine, Nuernberg, Peter, Benzing, Thomas, Levtchenko, Elena, Seyberth, Hannsjoerg W., Klaus, Guenter, Yigit, Goekhan, Lin, Shih-Hua, Timmer, Albert, de Koning, Tom J., Scherjon, Sicco A., Schlingmann, Karl P., Bertrand, Mathieu J. M., Rinschen, Markus M., de Backer, Olivier, Konrad, Martin and Koemhoff, Martin (2016). Polyhydramnios, Transient Antenatal Bartter's Syndrome, and MAGED2 Mutations. N. Engl. J. Med., 374 (19). S. 1853 - 1864. WALTHAM: MASSACHUSETTS MEDICAL SOC. ISSN 1533-4406

Schlingmann, Karl P., Bandulik, Sascha, Mammen, Cherry, Tarailo-Graovac, Maja ORCID: 0000-0002-4472-8584, Holm, Rikke, Baumann, Matthias, Koenig, Jens, Lee, Jessica J. Y., Drogemoller, Britt ORCID: 0000-0002-3348-5855, Imminger, Katrin, Beck, Bodo B., Altmueller, Janine, Thiele, Holger, Waldegger, Siegfried, van't Hoff, William, Kleta, Robert, Warth, Richard ORCID: 0000-0001-6084-0659, van Karnebeek, Clara D. M., Vilsen, Bente ORCID: 0000-0002-4727-9382, Bockenhauer, Detlef ORCID: 0000-0001-5878-941X and Konrad, Martin (2018). Germline De Novo Mutations in ATP1A1 Cause Renal Hypomagnesemia, Refractory Seizures, and Intellectual Disability. Am. J. Hum. Genet., 103 (5). S. 808 - 817. CAMBRIDGE: CELL PRESS. ISSN 1537-6605

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