Should testing for mosaic genome-wide paternal uniparental disomy in Beckwith-Wiedemann spectrum (BWSp) be implemented in diagnostic testing? von Maas, Saskia M, Krzyzewska, Izabela M, Lombardi, Maria P R, Mannens, Marcel M A, Vos, Niels, Bliek, Jet

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Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans von Vikkula, Mikka, Al-Gazali, Lihadh, Zwijnenburg, Petra J, Alders, Marielle, Hennekam, Raoul C, Salehi, Faranak, Gjini, Evisa, Verheij, Joke B G M, Hogan, Benjamin M, Offerhaus, G Johan A, Holmberg, Eva E, Schulte-Merker, Stefan, Hennekam, Eric A, Schroor, Eelco J, Mulder, Margot F, Prescott, Trine E, Witte, Merlijn, Mannens, Marcel M A M

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Genomic Organization and Chromosomal Localization of a Member of the MAP Kinase Phosphatase Gene Family to Human Chromosome 11p15.5 and a Pseudogene to 10q11.2 von Nesbit, M.A., Hodges, M.D., Campbell, L., de Meulemeester, T.M.A.M.O., Alders, M., Rodrigues, N.R., Talbot, K., Theodosiou, A.M., Mannens, M.A., Nakamura, Y., Little, P.F.R., Davies, K.E.

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Whole-exome sequencing is a powerful approach for establishing the etiological diagnosis in patients with intellectual disability and microcephaly von Rump, Patrick, Jazayeri, Omid, van Dijk-Bos, Krista K, Johansson, Lennart F, van Essen, Anthonie J, Verheij, Johanna B G M, Veenstra-Knol, Hermine E, Redeker, Egbert J W, Mannens, Marcel M A M, Swertz, Morris A, Alizadeh, Behrooz Z, van Ravenswaaij-Arts, Conny M A, Sinke, Richard J, Sikkema-Raddatz, Birgit

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DNA methylation episignatures: insight into copy number variation von van der Laan, Liselot, Rooney, Kathleen, Trooster, Tessa Ma, Mannens, Marcel Mam, Sadikovic, Bekim, Henneman, Peter

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A novel lamin A/C mutation in a Dutch family with premature atherosclerosis von Weterings, A.A.W, van Rijsingen, I.A.W, Plomp, A.S, Zwinderman, A.H, Lekanne Deprez, R.H, Mannens, M.M, van den Bergh Weerman, M.A, van der Wal, A.C, Pinto-Sietsma, S.J

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Episignature Mapping of TRIP12 provides functional insight into Clark-Baraitser Syndrome von Laan, L. van der, Rooney, K., Alders, M., Relator, R., McConkey, H., Kerkhof, J., Levy, M.A., Lauffer, P., Aerden, M., Theunis, M., Legius, E., Tedder, M.L., Vissers, L.E.L.M., Koene, S., Ruivenkamp, C., Hoffer, M.J.V., Wieczorek, D., Bramswig, N.C., Herget, T., Gonzalez, V.L., Santos-Simarro, F., Torring, P.M., Denomme-Pichon, A.S., Isidor, B., Keren, B., Julia, S., Schaefer, E., Francannet, C., Maillard, P.Y., Misra-Isrie, M., Esch, H. van, Mannens, M.M.A.M., Sadikovic, B., Haelst, M.M. van, Henneman, P.

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Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders von Levy, M.A., McConkey, H., Kerkhof, J., Barat-Houari, M., Bargiacchi, S., Biamino, E., Cappuccio, G., Ciolfi, A., Clarke, A., DuPont, B.R., Elting, M.W., Faivre, L., Fee, T., Fletcher, R.S., Cherik, F., Foroutan, A., Friez, M.J., Gervasini, C., Haghshenas, S., Hilton, B.A., Jenkins, Z., Kaur, S., Lewis, S., Louie, R.J., Maitz, S., Milani, D., Morgan, A.T., Oegema, R., Ostergaard, E., Pallares, N.R., Piccione, M., Pizzi, S., Plomp, A.S., Poulton, C., Reilly, J., Relator, R., Rius, R., Robertson, S., Rooney, K., Rousseau, J., Santen, G.W.E., Santos-Simarro, F., Schijns, J., Squeo, G.M., St John, M., Thauvin-Robinet, C., Traficante, G., Sluijs, P.J. van der, Vergano, S.A., Vos, N., Walden, K.K., Azmanov, D., Balci, T., Banka, S., Gecz, J., Henneman, P., Lee, J.A., Mannens, M.M.A.M., Roscioli, T., Siu, V., Amor, D.J., Baynam, G., Bend, E.G., Boycott, K., Brunetti-Pierri, N., Campeau, P.M., Christodoulou, J., Dyment, D., Esber, N., Fahrner, J.A., Fleming, M.D., Genevieve, D., Kerrnohan, K.D., McNeill, A., Menke, L.A., Merla, G., Prontera, P., Rockman-Greenberg, C., Schwartz, C., Skinner, S.A., Stevenson, R.E., Vitobello, A., Tartaglia, M., Alders, M., Tedder, M.L., Sadikovic, B.

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ATA-Lehrbuch: Ausbildung Zur anästhesietechnischen Assistenz von Koppert, Wolfgang, Eiß, Markus, Nitschmann, Sirka, Rabenbauer, Stefan, Liehn, Margret

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