Rapid diagnosis of bloodstream infections in patients on home parenteral nutrition von Wouters, Y., Dalloyaux, D., Roelofs, H., Morsche, R.te, Wanten, G.

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Droplet Digital Polymerase Chain Reaction Enables Rapid Detection And Characterisation Of Bacteraemia In Chronic Parenteral Nutrition Patients von Gillis, V., Dalloyaux, D., Te Morsche, R.H.M., van Ingen, J., Sir, O., Bleeker-Rovers, C.P., Wertheim, H.F., Wouters, Y., Wanten, G.J.

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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 von Mohamed, M., Gardeitchik, T., Balasubramaniam, S., Guerrero-Castillo, S., Dalloyaux, D., Kraaij, S. van, Venselaar, H., Hoischen, A., Urban, Z., Brandt, U., Al-Shawi, R., Simons, J.P., Frison, M., Ngu, L.H., Callewaert, B., Spelbrink, H., Kallemeijn, W.W., Aerts, J.M.F.G., Waugh, M.G., Morava, E., Wevers, R.A.

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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 von Mohamed, M, Gardeitchik, T, Balasubramaniam, S, Guerrero-Castillo, S, Dalloyaux, D, van Kraaij, S, Venselaar, H, Hoischen, A, Urban, Z, Brandt, U, Al-Shawi, R, Simons, JP, Frison, M, Ngu, L-H, Callewaert, B, Spelbrink, H, Kallemeijn, WW, Aerts, JMFG, Waugh, MG, Morava, E, Wevers, RA

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Bi-allelic Mutations in the Mitochondrial Ribosomal Protein MRPS2 Cause Sensorineural Hearing Loss, Hypoglycemia, and Multiple OXPHOS Complex Deficiencies von 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

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