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Results: 3

Authors: Foulquier, François Amyere, Mustapha Jaeken, Jaak
Citation: Foulquier, François et al., TMEM165 Deficiency Causes a Congenital Disorder of Glycosylation, American journal of human genetics (Online) AJHG , 91(1), 2012, pp. 15-26

Authors: Jaeken, Jaak Martens Kevin François, Inge Eyskens, François Lecointre, Claudine Derua, Rita Meulemans, Sandra Slootstra, Jerry W. Waelkens, Etienne De Zegher, Francis Creemers, Jhon W.M. Matthijs, Gert
Citation: Jaeken, Jaak et al., Deletion of PREPL, a Gene Encoding a Putative Serine Oligopeptidase, in Patients with Hypotonia-Cystinuria Syndrome, American journal of human genetics , 78(1), 2006, pp. 38-51

Authors: Hart, Claire E. Race, Valerie Achouri, Younes Wiame, Elsa Sharrard, Mark Olpin, Simon E. Watkinson, Jennifer Bonham, James R. Jaeken, Jaak Matthijs, Gert Van Schaftingen, Emile
Citation: E. Hart, Claire et al., Phosphoserine Aminotransferase Deficiency: A Novel Disorder of the Serine Biosynthesis Pathway, American journal of human genetics , 80(5), 2007, pp. 931-937
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