A frame-shift mutation in the type I parathyroid hormone (PTH)/PTH-related peptide receptor causing blomstrand lethal osteochondrodysplasia von KARPERIEN, M, VAN DER HARTEN, H. J, VAN SCHOOTEN, R, FARIH-SIPS, H, HOLLANDER, N. S. D, KNEPPERS, S. L. J, NIJWEIDE, P, PAPAPOULOS, S. E, LOWIK, C. W. G. M

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DNAxs/DNAStatistX: Development and validation of a software suite for the data management and probabilistic interpretation of DNA profiles von Benschop, Corina C.G, Hoogenboom, Jerry, Hovers, Pauline, Slagter, Martin, Kruise, Dennis, Parag, Raymond, Steensma, Kristy, Slooten, Klaas, Nagel, Jord H.A, Dieltjes, Patrick, van Marion, Vincent, van Paassen, Heidi, de Jong, Jeroen, Creeten, Christophe, Sijen, Titia, Kneppers, Alexander L.J

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Recurrence risk due to germ line mosaicism: Duchenne and Becker muscular dystrophy von Helderman-van den Enden, ATJM, De Jong, R, Den Dunnen, JT, Houwing-Duistermaat, JJ, Kneppers, ALJ, Ginjaar, HB, Breuning, MH, Bakker, E

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Duplications in the DMD gene von White, S.J., Aartsma-Rus, A., Flanigan, K.M., Weiss, R.B., Kneppers, A.L.J., Lalic, T., Janson, A.A.M., Ginjaar, H.B., Breuning, M.H., den Dunnen, J.T.

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Development and validation of a fast and automated DNA identification line von Benschop, Corina C.G., Slagter, Martin, Nagel, Jord H.A., Hovers, Pauline, Tuinman, Sietske, Duijs, Francisca E., Grol, Laurens J.W., Jegers, Mariëlle, Berghout, Abigayle, van der Zwan, Anne-Wil, Ypma, Rolf J.F., de Jong, Jeroen, Kneppers, Alexander L.J.

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Multi-laboratory validation of DNAxs including the statistical library DNAStatistX von Benschop, Corina C.G., Hoogenboom, Jerry, Bargeman, Fiep, Hovers, Pauline, Slagter, Martin, van der Linden, Jennifer, Parag, Raymond, Kruise, Dennis, Drobnic, Katja, Klucevsek, Gregor, Parson, Walther, Berger, Burkhard, Laurent, Francois Xavier, Faivre, Magalie, Ulus, Ayhan, Schneider, Peter, Bogus, Magdalena, Kneppers, Alexander L.J., Sijen, Titia

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ENFSI 2022 multidisciplinary collaborative exercise: organisation and outcomes von Zampa, F., Bandey, H., Bécue, A., Bouzaid, E., Branco, M.J., Buegler, J., Kambosos, M., Kneppers, S., Kriiska-Maiväli, K., Mattei, A., Zatkalikova, L.

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Automated DNA casework workflow: A retrospective study of the first implementation of FIDL at the Netherlands Forensic Institute von Benschop, Corina C.G., Slagter, Martin, Smit, Sophie, Kneppers, Alexander L.J.

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Hepatitis E virus infection and hepatic GvHD in allogeneic hematopoietic stem cell transplantation recipients von Willemse, S B, Bezuur, D L, Blom, P, Kneppers, E, Verheij, J, Zaaijer, H L, Hazenberg, M D

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Early Aboriginal pottery production and offshore island occupation on Jiigurru (Lizard Island group), Great Barrier Reef, Australia von Ulm, Sean, McNiven, Ian J., Summerhayes, Glenn R., Wu, Pei-hua, Bunbury, Magdalena M.E., Petchey, Fiona, Hua, Quan, Skelly, Robert, Lambrides, Ariana B.J., Rowe, Cassandra, Lowe, Kelsey M., Reepmeyer, Christian H., Maclaurin, Cailey, Woo, Katherine G.P., Harris, Matthew, Morgan, Sarah B., Turner-Kose, Kayla L., Slater, Sarah A., Connelly, Joshua D., Kneppers, Michael C., Szabó, Katherine, Fairbairn, Andrew, Haberle, Simon G., Hopf, Felicitas, Bultitude, Robert, Ash, Jeremy, Lewis, Stephen E., Beaman, Robin J., Leon, Javier Xavier, McDowell, Matthew C., Potter, Martin, Connelly, Benjamin, Little, Chris, Jackson, Scott, McCarthy, John, Nothdurft, Luke D., Zhao, Jian-xin, Bird, Michael I., Felgate, Matthew W., Cobus, Brian

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ESCMID generic competencies in antimicrobial prescribing and stewardship: towards a European consensus von Dyar, O.J., Beović, B., Pulcini, C., Tacconelli, E., Hulscher, M., Cookson, B., Ashiru-Oredope, D., Barcs, I., Blix, H.S., Buyle, F., Chowers, M., Čižman, M., Cookson, B., Del Pozo, J.L., Deptula, A., Dumpis, U., Florea, D., van de Garde, E., Geffen, Y., Giske, C.G., Grau, S., Hajdú, E., Hell, M., Hondo, Ł., Hussein, K., Huttner, B., Kern, W., Kernéis, S., Knepper, V., Kofteridis, D., Kostyanev, T., Kuijper, E., Lebanova, H., Lewis, R., Cordina, C.M., Matulionyte, R., Maurer, F., Messiaen, P., Miciuleviciene, J., Mrhar, A., Nabuurs-Franssen, M., Naesens, R., Oxacelay, C., Pagani, L., Paño-Pardo, J.R., Paul, M., Petrikkos, G., Pluess-Suard, C., Popescu, G.A., Porsche, U., Prins, J., Pulcini, C., Rello, J., Rodríguez-Baño, J., Rossolini, G.M., Salzberger, B., Seme, K., Simonsen, G.S., Sînziana, M., Skovgaard, S., Smith, I., Sönsken, U., Soriano, A., Sviestiņa, I., Szilagyi, E., Tängdén, T., Tattevin, P., Tsioutis, C., Vilde, A., Wanke-Rytt, M., Wechsler-Fördös, A., Zarb, P.

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Sarcoglycanopathies in Dutch patients with autosomal recessive limb girdle muscular dystrophy von GINJAAR, H. B, VAN DER KOOI, A. J, JEANPIERRE, M, BOLHUIS, P. A, MOORMAN, A. F. M, DE VISSER, M, BAKKER, E, OMMEN, G. J. B. V, CEELIE, H, KNEPPERS, A. L. J, VAN MEEGEN, M, BARTH, P. G, BUSCH, H. F. M, WOKKE, J. H. J, ANDERSON, L. V. B, BÖNNEMANN, C. G

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A longevity assurance gene homolog of tomato mediates resistance to Alternaria alternata f. sp. lycopersici toxins and fumonisin B 1 von Brandwagt, Bas F., Mesbah, Laurent A., Takken, Frank L. W., Laurent, Pascal L., Kneppers, Tarcies J. A., Hille, Jacques, Nijkamp, H. John J.

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Amoxicillin dosing recommendations are very different in European countries: a cross-sectional survey von Pulcini, C., Beovic, B., Cavalié, P., Deptula, A., Dyar, O., Gyssens, I., Kern, W., Knepper, V., Kofteridis, D., Hanberger, H., Huttner, B., Messiaen, P., Pagani, L., Pano Pardo, J., Pulcini, C., Rodriguez-Bano, J., Skov Simonsen, G., Vlahović-Palčevski, V., Zarb, P.

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Diagnostic Notch3 sequence analysis in CADASIL: Three new mutations in Dutch patients von OBERSTEIN, S. A. J. L, FERRARI, M. D, BAKKER, E, VAN GESTEL, J, KNEPPERS, A. L. J, FRANTS, R. R, BREUNING, M. H, HAAN, J

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A Frame-Shift Mutation in the Type I Parathyroid Hormone (PTH)/PTH-Related Peptide Receptor Causing Blomstrand Lethal Osteochondrodysplasia von Karperien, Marcel, van der Harten, Hans J., van Schooten, Ron, Farih-Sips, Hetty, den Hollander, Nicolette S., Kneppers, Sander L. J., Nijweide, Peter, Papapoulos, Socrates E., Löwik, Clemens W. G. M.

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Dystrophin nonsense mutation induces different levels of exon 29 skipping and leads to variable phenotypes within one BMD family von Ginjaar, I B, Kneppers, A L, v d Meulen, J D, Anderson, L V, Bremmer-Bout, M, van Deutekom, J C, Weegenaar, J, den Dunnen, J T, Bakker, E

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The clinical and molecular genetic approach to Duchenne and Becker muscular dystrophy: an updated protocol von van Essen, A J, Kneppers, A L, van der Hout, A H, Scheffer, H, Ginjaar, I B, ten Kate, L P, van Ommen, G J, Buys, C H, Bakker, E

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Point mutation screening for 16 exons of the dystrophin gene by multiplex single-strand conformation polymorphism analysis von Kneppers, Alexander L. J., Deutz-Terlouw, Piëtte P., Dunnen, Johan T. Den, Van, Gert Jan B., Bakker, Egbert

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Different mosaicism frequencies for proximal and distal Duchenne muscular dystrophy (DMD) mutations indicate difference in etiology and recurrence risk von PASSOS-BUENO, M. R, BAKKER, E, KNEPPERS, A. L. J, TAKATA, R. I, RAPAPORT, DEN DUNNEN, J. T, ZATZ, M, VAN OMMEN, G. J. B

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