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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
van Outersterp, Rianne E., Engelke, Udo F. H., Merx, Jona, Berden, Giel, Paul, Mathias, Thomulka, Thomas, Berkessel, Albrecht, Huigen, Marleen C. D. G., Kluijtmans, Leo A. J., Mecinovic, Jasmin ORCID: 0000-0002-5559-3822, Rutjes, Floris P. J. T., van Karnebeek, Clara D. M., Wevers, Ron A., Boltje, Thomas J., Coene, Karlien L. M., Martens, Jonathan and Oomens, Jos
ORCID: 0000-0002-2717-1278
(2021).
Metabolite Identification Using Infrared Ion Spectroscopy-Novel Biomarkers for Pyridoxine-Dependent Epilepsy.
Anal. Chem., 93 (46).
S. 15340 - 15349.
WASHINGTON:
AMER CHEMICAL SOC.
ISSN 1520-6882