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Journal Article
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
Reichold, Markus, Klootwijk, Enriko D., Reinders, Joerg, Otto, Edgar A., Milani, Mario ORCID: 0000-0001-6098-3991, Broeker, Carsten, Laing, Chris, Wiesner, Julia, Devi, Sulochana, Zhou, Weibin, Schmitt, Roland, Tegtmeier, Ines, Sterner, Christina, Doellerer, Hannes, Renner, Kathrin, Oefner, Peter J., Dettmer, Katja, Simbuerger, Johann M., Witzgall, Ralph, Stanescu, Horia C., Dumitriu, Simona, Iancu, Daniela, Patel, Vaksha, Mozere, Monika, Tekman, Mehmet ORCID: 0000-0002-4181-2676, Jaureguiberry, Graciana, Issler, Naomi, Kesselheim, Anne, Walsh, Stephen B., Gale, Daniel P., Howie, Alexander J., Martins, Joana R., Hall, Andrew M., Kasgharian, Michael, O'Brien, Kevin, Ferreira, Carlos R., Atwal, Paldeep S., Jain, Mahim, Hammers, Alexander ORCID: 0000-0001-9530-4848, Charles-Edwards, Geoffrey, Choe, Chi-Un, Isbrandt, Dirk, Cebrian-Serrano, Alberto, Davies, Ben, Sandford, Richard N., Pugh, Christopher, Konecki, David S., Povey, Sue, Bockenhauer, Detlef ORCID: 0000-0001-5878-941X, Lichter-Konecki, Uta, Gahl, William A., Unwin, Robert J., Warth, Richard ORCID: 0000-0001-6084-0659 and Kleta, Robert
(2018).
Glycine Amidinotransferase (GATM), Renal Fanconi Syndrome, and Kidney Failure.
J. Am. Soc. Nephrol., 29 (7).
S. 1849 - 1859.
WASHINGTON:
AMER SOC NEPHROLOGY.
ISSN 1533-3450