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Number of items: 7.

Rumping, Lynne; Büttner, Benjamin; Maier, Oliver; Rehmann, Holger; Lequin, Maarten; Schlump, Jan-Ulrich; Schmitt, Bernhard; Schiebergen-Bronkhorst, Birgit; Prinsen, Hubertus C M T; Losa, Michele; Fingerhut, Ralph; Lemke, Johannes R; Zwartkruis, Fried J T; Houwen, Roderick H J; Jans, Judith J M; Verhoeven-Duif, Nanda M; van Hasselt, Peter M; Jamra, Rami (2019). Identification of a Loss-of-Function Mutation in the Context of Glutaminase Deficiency and Neonatal Epileptic Encephalopathy. JAMA Neurology, 76(3):342.

Fauth, Christine; Steindl, Katharina; Toutain, Annick; Farrell, Sandra; Witsch-Baumgartner, Martina; Karall, Daniela; Joset, Pascal; Böhm, Sebastian; Baumer, Alessandra; Maier, Oliver; Zschocke, Johannes; Weksberg, Rosanna; Marshall, Christian R; Rauch, Anita (2016). A recurrent germline mutation in the PIGA gene causes Simpson-Golabi-Behmel syndrome type 2. American Journal of Medical Genetics. Part A, 170(2):392-402.

Grunt, Sebastian; Mazenauer, Lea; Buerki, Sarah E; Boltshauser, Eugen; Mori, Andrea Capone; Datta, Alexandre N; Fluss, Joël; Mercati, Danielle; Keller, Elmar; Maier, Oliver; Poloni, Claudia; Ramelli, Gian-Paolo; Schmitt-Mechelke, Thomas; Steinlin, Maja (2015). Incidence and outcomes of symptomatic neonatal arterial ischemic stroke. Pediatrics, 135(5):e1220-e1228.

Plecko, Barbara; Paul, Karl; Mills, Philippa; Clayton, Peter; Paschke, Eduard; Maier, Oliver; Hasselmann, Oswald; Schmiedel, Gudrun; Kanz, Simone; Connolly, Mary; Wolf, Nicole; Struys, Eduard; Stockler, Sylvia; Abela, Lucia; Hofer, Doris (2014). Pyridoxine responsiveness in novel mutations of the PNPO gene. Neurology, 82(16):1425-1433.

Studer, Martina; Boltshauser, Eugen; Capone Mori, Andrea; Datta, Alexandre; Fluss, Joel; Mercati, Danielle; Hackenberg, Annette; Keller, Elmar; Maier, Oliver; Marcoz, Jean-Pierre; Ramelli, Gian-Paolo; Poloni, Claudia; Schmid, Regula; Schmitt-Mechelke, Thomas; Wehrli, Edith; Heinks, Theda; Steinlin, Maja (2014). Factors affecting cognitive outcome in early pediatric stroke. Neurology, 82(9):784-92.

Imbach, Lukas L; Sommerauer, Michael; Leuenberger, Kaspar; Schreglmann, Sebastian R; Maier, Oliver; Uhl, Mechtild; Gassert, Roger; Baumann, Christian R (2014). Dopamine-responsive pattern in tremor patients. Parkinsonism & Related Disorders, 20(11):1283-1286.

Mills, Philippa B; Camuzeaux, Stephane S M; Footitt, Emma J; Mills, Kevin A; Gissen, Paul; Fisher, Laura; Das, Krishna B; Varadkar, Sophia M; Zuberi, Sameer; McWilliam, Robert; Stödberg, Tommy; Plecko, Barbara; Baumgartner, Matthias R; Maier, Oliver; Calvert, Sophie; Riney, Kate; Wolf, Nicole I; Livingston, John H; Bala, Pronab; Morel, Chantal F; Feillet, François; Raimondi, Francesco; Del Giudice, Ennio; Chong, W Kling; Pitt, Matthew; Clayton, Peter T (2014). Epilepsy due to PNPO mutations: genotype, environment and treatment affect presentation and outcome. Brain, 137(5):1350-1360.

This list was generated on Thu Jun 20 22:29:47 2019 CEST.