Putting genome-wide sequencing in neonates into perspective (vol 24, pg 1074, 2019)

Autor: Sluijs, P.J. van der, Aten, E., Barge-Schaapveld, D.Q.C.M., Bijlsma, E.K., Bokenkamp-Gramann, R., Kaat, L.D., Doorn, R. van, Putte, D.F. van de, Haeringen, A. van, Harkel, A.D.J. ten, Hilhorst-Hofstee, Y., Hoffer, M.J.V., Hollander, N.S. den, Ierland, Y. van, Koopmans, M., Kriek, M., Moghadasi, S., Nibbeling, E.A.R., Peeters-Scholte, C.M.P.C.D., Potjer, T.P., Rij, M. van, Ruivenkamp, C.A.L., Rutten, J.W., Steggerda, S.J., Suerink, M., Tan, R.N.G.B., Tuin, K. van der, Visser, R., Werf-'t Lam, A.S. van der, Williams, M., Witlox, R., Santen, G.W.E.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::d12b5da8a07bddc55f5c510107503594
https://doi.org/10.1038/s41436-018-0363-3

The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome (vol 21, pg 1295, 2019)

Autor: Sluijs, P.J. van der, Jansen, S., Vergano, S.A., Adachi-Fukuda, M., Alanay, Y., AlKindy, A., Baban, A., Bayat, A., Beck-Wodl, S., Berry, K., Bijlsma, E.K., Bok, L.A., Brouwer, A.F.J., Burgt, I. van der, Campeau, P.M., Canham, N., Chrzanowska, K., Chu, Y.W.Y., Chung, B.H.Y., Dahan, K., Rademaeker, M. de, Destree, A., Dudding-Byth, T., Earl, R., Elcioglu, N., Elias, E.R., Fagerberg, C., Gardham, A., Gener, B., Gerkes, E.H., Grasshoff, U., Haeringen, A. van, Heitink, K.R., Herkert, J.C., Hollander, N.S. den, Horn, D., Hunt, D., Kant, S.G., Kato, M., Kayserili, H., Kersseboom, R., Kilic, E., Krajewska-Walasek, M., Lammers, K., Laulund, L.W., Lederer, D., Lees, M., Lopez-Gonzalez, V., Maas, S., Mancini, G.M.S., Marcelis, C., Martinez, F., Maystadt, I., McGuire, M., Mckee, S., Mehta, S., Metcalfe, K., Milunsky, J., Mizuno, S., Moeschler, J.B., Netzer, C., Ockeloen, C.W., Oehl-Jaschkowitz, B., Okamoto, N., Olminkhof, S.N.M., Orellana, C., Pasquier, L., Pottinger, C., Riehmer, V., Robertson, S.P., Roifman, M., Rooryck, C., Ropers, F.G., Rosello, M., Ruivenkamp, C.A.L., Sagiroglu, M.S., Sallevelt, S.C.E.H., Calvo, A.S., Simsek-Kiper, P.O., Soares, G., Solaeche, L., Sonmez, F.M., Splitt, M., Steenbeek, D., Stegmann, A.P.A., Stumpel, C.T.R.M., Tanabe, S., Uctepe, E., Utine, G.E., Veenstra-Knol, H.E., Venkateswaran, S., Vilain, C., Vincent-Delorme, C., Vulto-van Silfhout, A.T., Wheeler, P., Wilson, G.N., Wilson, L.C., Wollnik, B., Kosho, T., Wieczorek, D., Eichler, E., Pfundt, R., Vries, B.B.A. de, Clayton-Smith, J., Santen, G.W.E.

Publikováno v: GENETICS IN MEDICINE
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
r-FISABIO. Repositorio Institucional de Producción Científica
r-FISABIO: Repositorio Institucional de Producción Científica
Fundación para el Fomento de la Investigación Sanitaria y Biomédica de la Comunitat Valenciana (FISABIO)

The original version of this Article contained an error in the spelling of the author Pleuntje J. van der Sluijs, which was incorrectly given as Eline (P. J.) van der Sluijs. This has now been corrected in both the PDF and HTML versions of the Articl

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::6e2a523486202ae0ea0c08bc1d0d21e7
https://hdl.handle.net/1887/122494