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Journal Article
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
Schwahn, Bernd C., Van Spronsen, Francjan J., Belaidi, Abdel A., Bowhay, Stephen, Christodoulou, John ORCID: 0000-0002-8431-0641, Derks, Terry G., Hennermann, Julia B., Jameson, Elisabeth, Koenig, Kai, McGregor, Tracy L., Font-Montgomery, Esperanza, Santamaria-Araujo, Jose A., Santra, Saikat ORCID: 0000-0002-7497-3556, Vaidya, Mamta, Vierzig, Anne, Wassmer, Evangeline, Weis, Ilona, Wong, Flora Y., Veldman, Alex and Schwarz, Guenter ORCID: 0000-0002-2118-9338
(2015).
Efficacy and safety of cyclic pyranopterin monophosphate substitution in severe molybdenum cofactor deficiency type A: a prospective cohort study.
Lancet, 386 (10007).
S. 1955 - 1964.
NEW YORK:
ELSEVIER SCIENCE INC.
ISSN 1474-547X