Droplet digital polymerase chain reaction for rapid broad‐spectrum detection of bloodstream infections
Wouters, Yannick, Dalloyaux, Daisy, Christenhusz, Anke, Roelofs, Hennie M. J., Wertheim, Heiman F., Bleeker‐Rovers, Chantal P., Morsche, René H., Wanten, Geert J. A.
Published in Microbial biotechnology (01.05.2020)
Published in Microbial biotechnology (01.05.2020)
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ddPCR enables rapid detection of bloodstream infections in patients on home parenteral nutrition: A prospective cohort study
Gillis, Veerle E.L.M., Dalloyaux, Daisy, te Morsche, Rene H.M., van Ingen, Jakko, Sir, Özcan, Rovers, Chantal P., Wouters, Yannick, Wanten, Geert J.A.
Published in Journal of microbiology, immunology and infection (01.06.2024)
Published in Journal of microbiology, immunology and infection (01.06.2024)
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Bi-allelic Mutations in the Mitochondrial Ribosomal Protein MRPS2 Cause Sensorineural Hearing Loss, Hypoglycemia, and Multiple OXPHOS Complex Deficiencies
Gardeitchik, Thatjana, Mohamed, Miski, Ruzzenente, Benedetta, Karall, Daniela, Guerrero-Castillo, Sergio, Dalloyaux, Daisy, van den Brand, Mariël, van Kraaij, Sanne, van Asbeck, Ellyze, Assouline, Zahra, Rio, Marlene, de Lonlay, Pascale, Scholl-Buergi, Sabine, Wolthuis, David F.G.J., Hoischen, Alexander, Rodenburg, Richard J., Sperl, Wolfgang, Urban, Zsolt, Brandt, Ulrich, Mayr, Johannes A., Wong, Sunnie, de Brouwer, Arjan P.M., Nijtmans, Leo, Munnich, Arnold, Rötig, Agnès, Wevers, Ron A., Metodiev, Metodi D., Morava, Eva
Published in American journal of human genetics (05.04.2018)
Published in American journal of human genetics (05.04.2018)
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Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa
Van Damme, Tim, Gardeitchik, Thatjana, Mohamed, Miski, Guerrero-Castillo, Sergio, Freisinger, Peter, Guillemyn, Brecht, Kariminejad, Ariana, Dalloyaux, Daisy, van Kraaij, Sanne, Lefeber, Dirk J., Syx, Delfien, Steyaert, Wouter, De Rycke, Riet, Hoischen, Alexander, Kamsteeg, Erik-Jan, Wong, Sunnie Y., van Scherpenzeel, Monique, Jamali, Payman, Brandt, Ulrich, Nijtmans, Leo, Korenke, G. Christoph, Chung, Brian H.Y., Mak, Christopher C.Y., Hausser, Ingrid, Kornak, Uwe, Fischer-Zirnsak, Björn, Strom, Tim M., Meitinger, Thomas, Alanay, Yasemin, Utine, Gulen E., Leung, Peter K.C., Ghaderi-Sohi, Siavash, Coucke, Paul, Symoens, Sofie, De Paepe, Anne, Thiel, Christian, Haack, Tobias B., Malfait, Fransiska, Morava, Eva, Callewaert, Bert, Wevers, Ron A.
Published in American journal of human genetics (02.02.2017)
Published in American journal of human genetics (02.02.2017)
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Novel defect in phosphatidylinositol 4‐kinase type 2‐alpha (PI4K2A) at the membrane‐enzyme interface is associated with metabolic cutis laxa
Mohamed, Miski, Gardeitchik, Thatjana, Balasubramaniam, Shanti, Guerrero‐Castillo, Sergio, Dalloyaux, Daisy, Kraaij, Sanne, Venselaar, Hanka, Hoischen, Alexander, Urban, Zsolt, Brandt, Ulrich, Al‐Shawi, Raya, Simons, J. Paul, Frison, Michele, Ngu, Lock‐Hock, Callewaert, Bert, Spelbrink, Hans, Kallemeijn, Wouter W., Aerts, Johannes M. F. G., Waugh, Mark G., Morava, Eva, Wevers, Ron A.
Published in Journal of inherited metabolic disease (01.11.2020)
Published in Journal of inherited metabolic disease (01.11.2020)
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Journal Article
Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa
Van Damme, Tim, Gardeitchik, Thatjana, Mohamed, Miski, Guerrero-Castillo, Sergio, Freisinger, Peter, Guillemyn, Brecht, Kariminejad, Ariana, Dalloyaux, Daisy, van Kraaij, Sanne, Lefeber, Dirk J., Syx, Delfien, Steyaert, Wouter, De Rycke, Riet, Hoischen, Alexander, Kamsteeg, Erik-Jan, Wong, Sunnie Y., van Scherpenzeel, Monique, Jamali, Payman, Brandt, Ulrich, Nijtmans, Leo, Korenke, G. Christoph, Chung, Brian H.Y., Mak, Christopher C.Y., Hausser, Ingrid, Kornak, Uwe, Fischer-Zirnsak, Björn, Strom, Tim M., Meitinger, Thomas, Alanay, Yasemin, Utine, Gulen E., Leung, Kai Ching Peter, Ghaderi-Sohi, Siavash, Coucke, Paul, Symoens, Sofie, De Paepe, Anne, Thiel, Christian, Haack, Tobias B., Malfait, Fransiska, Morava, Eva, Callewaert, Bert, Wevers, Ron A.
Published in American journal of human genetics (06.08.2020)
Published in American journal of human genetics (06.08.2020)
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