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Journal Article

Johannes, Lena, Fu, Chun-Yu and Schwarz, Guenter (2022). Molybdenum Cofactor Deficiency in Humans. Molecules, 27 (20). BASEL: MDPI. ISSN 1420-3049

Macha, Arthur, Liebsch, Filip ORCID: 0000-0002-0955-8065, Fricke, Steffen, Hetsch, Florian, Neuser, Franziska, Johannes, Lena, Kress, Vanessa, Djemie, Tania, Santamaria-Araujo, Jose A., Vilain, Catheline, Aeby, Alec, Van Bogaert, Patrick, Dejanovic, Borislav, Weckhuysen, Sarah ORCID: 0000-0003-2878-1147, Meier, Jochen C. and Schwarz, Guenter (2022). Biallelic gephyrin variants lead to impaired GABAergic inhibition in a patient with developmental and epileptic encephalopathy. Hum. Mol. Genet., 31 (6). S. 901 - 914. OXFORD: OXFORD UNIV PRESS. ISSN 1460-2083

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