Mutations in PEX10 are a cause of autosomal recessive ataxia von Régal, Luc, Ebberink, Merel S., Goemans, Nathalie, Wanders, Ronald J. A., De Meirleir, Linda, Jaeken, Jacques, Schrooten, Maarten, Van Coster, Rudy, Waterham, Hans R.

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Defective DNA Polymerase α-Primase Leads to X-Linked Intellectual Disability Associated with Severe Growth Retardation, Microcephaly, and Hypogonadism von Van Esch, Hilde, Colnaghi, Rita, Freson, Kathleen, Starokadomskyy, Petro, Zankl, Andreas, Backx, Liesbeth, Abramowicz, Iga, Outwin, Emily, Rohena, Luis, Faulkner, Claire, Leong, Gary M., Newbury-Ecob, Ruth A., Challis, Rachel C., Õunap, Katrin, Jaeken, Jacques, Seuntjens, Eve, Devriendt, Koen, Burstein, Ezra, Low, Karen J., O’Driscoll, Mark

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Genetic disorders of renal phosphate transport von Levtchenko, Elena, Schoeber, Joost, Jaeken, Jacques

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From glycosylation to glycosylation diseases von Jaeken, Jacques, Matthijs, Gert

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Defective DNA Polymerase alpha-Primase Leads to X-Linked Intellectual Disability Associated with Severe Growth Retardation, Microcephaly, and Hypogonadism von Van Esch, Hilde, Colnaghi, Rita, Freson, Kathleen, Starokadomskyy, Petro, Zankl, Andreas, Backx, Liesbeth, Abramowicz, Iga, Outwin, Emily, Rohena, Luis, Faulkner, Claire, Leong, Gary M, Newbury-Ecob, Ruth A, Challis, Rachel C, Ounap, Katrin, Jaeken, Jacques, Seuntjens, Eve, Devriendt, Koen, Burstein, Ezra, Low, Karen J, O'Driscoll, Mark

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Genetic Disorders of Renal Phosphate Transport von Magen, Daniella, Zelikovic, Israel, Skorecki, Karl

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CDG nomenclature: time for a change von Jaeken, Jacques, Hennet, Thierry, Matthijs, Gert, Freeze, Hudson H

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Bacterial metabolism shown by magnetic resonance spectroscopy von Demaerel, Philippe, Van Hecke, Paul, Van Oostende, Sylvie, Baert, AlbertL, Jaeken, Jacques, Declercq, PeterE, Eggermont, Ephrem, Plets, Chris

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On the nomenclature of congenital disorders of glycosylation (CDG) von Jaeken, Jacques, Hennet, T, Freeze, H.H, Matthijs, Gert

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Quality control of glycoproteins bearing truncated glycans in an ALG9 defective (CDG-IL) patient von Vleugels, Wendy, Keldermans, Liesbeth, Jaeken, Jacques, Butters, Terry D, Michalski, Jean-Claude, Matthijs, Gert, Foulquier, François

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A novel mutation and first report of cardiomyopathy in ALG6-CDG (CDG-Ic): a case report von Al-Owain, Mohammed A, Mohamed, Sarar, Kaya, Namik, Zagal, Ahmad, Matthijs, Gert, Jaeken, Jacques

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RFT1-CDG: Deafness as a novel feature of congenital disorders of glycosylation von Jaeken, Jacques, Vleugels, Wendy, Régal, Luc, Corchia, C, Goemans, Nathalie, Haeuptle, M, Foulquier, François, Hennet, T, Matthijs, Gert, Dionisi-Vici, C

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GNAS defects identified by stimulatory G protein alpha subunit signalling studies in platelets von Freson, Kathleen, Izzi, Benedetta, Labarque, Veerle, van Helvoirt, M, Thys, C, Wittevrongel, C, Bex, Mieke, Bouillon, Roger, Godefroid, N, Proesmans, Willem, de Zegher, Francis, Jaeken, Jacques, Van Geet, Christel

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A new mutation in COG7 extends the spectrum of COG subunit deficiencies von Zeevaert, Renate, Foulquier, François, Cheillan, David, Cloix, Isabelle, Guffon, Nathalie, Sturiale, Luisella, Garozzo, Domenico, Matthijs, Gert, Jaeken, Jacques

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Functional polymorphisms in the paternally expressed XLalphas and its cofactor ALEX decrease their mutual interaction and enhance receptor-mediated cAMP formation von Freson, Kathleen, Jaeken, Jacques, Van Helvoirt, Monique, de Zegher, Francis, Wittevrongel, Christine, Thys, Chantal, Hoylaerts, Marc, Vermylen, Jozef, Van Geet, Christel

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259 SERUM URIC ACID CONCENTRATION AS AN INDEX FOR SEVERE PERINATAL ASPHYXIA von Zimmermann, Luc J I, Devlieger, Hugo, Casaer, Paul, Jaeken, Jacques, Eggermont, Ephrem

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Mutations in PMM2 , a phosphomannomutase gene on chromosome 16p13 in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndrome) von Matthijs, Gert, Schollen, Els, Pardon, Els, Veiga-Da-Cunha, Maria, Jaeken, Jaak, Cassiman, Jean-Jacques, Schaftingen, Emile Van

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Lack of Homozygotes for the Most Frequent Disease Allele in Carbohydrate-Deficient Glycoprotein Syndrome Type 1A von Matthijs, Gert, Schollen, Els, Van Schaftingen, Emile, Cassiman, Jean-Jacques, Jaeken, Jaak

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Mutation analysis in adenylosuccinate lyase deficiency: Eight novel mutations in the re-evaluated full ADSL coding sequence von Marie, Sandrine, Cuppens, Harry, Heuterspreute, Michel, Jaspers, Martine, Tola, Eduardo Zambrano, Gu, Xiao Xiao, Legius, Eric, Vincent, M.-Françoise, Jaeken, Jaak, Cassiman, Jean-Jacques, Van den Berghe, Georges

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Alpers syndrome presenting with anatomopathological features of fulminant autoimmune hepatitis von Witters, Peter, Pirenne, Jacques, Aerts, Raymond, Monbaliu, Diethard, Nevens, Frederik, Verslype, Chris, Laleman, Wim, Roskams, Tania, Desmet, Lars, Vlasselaers, Dirk, Mariën, Paul, Hoffman, Ilse, Lombaerts, Rita, Goethals, Eveline, Jaeken, Jaak, Meersseman, Wouter, Cassiman, David

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