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Journal Article
Coppens, Sandra 
ORCID: 0000-0001-9155-7506, Desmyter, Laurence, Koch, Manuel ORCID: 0000-0002-2962-7814, Oezcelik, Semra, O'Heir, Emily, Van Bogaert, Patrick, Vilain, Catheline and Christiaens, Florence
(2022).
Ehlers-Danlos/myopathy overlap syndrome caused by a large de novo deletion in COL12A1.
Am. J. Med. Genet. A, 188 (5).
S. 1556 - 1562.
HOBOKEN:
WILEY.
ISSN 1552-4833
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