TCEAL1 loss-of-function results in an X-linked dominant neurodevelopmental syndrome and drives the neurological disease trait in Xq22.2 deletions von Hijazi, Hadia, Reis, Linda M., Pehlivan, Davut, Bernstein, Jonathan A., Muriello, Michael, Syverson, Erin, Bonner, Devon, Estiar, Mehrdad A., Gan-Or, Ziv, Rouleau, Guy A., Lyulcheva, Ekaterina, Greenhalgh, Lynn, Tessarech, Marine, Colin, Estelle, Guichet, Agnès, Bonneau, Dominique, van Jaarsveld, R.H., Lachmeijer, A.M.A., Ruaud, Lyse, Levy, Jonathan, Tabet, Anne-Claude, Ploski, Rafal, Rydzanicz, Małgorzata, Kępczyński, Łukasz, Połatyńska, Katarzyna, Li, Yidan, Fatih, Jawid M., Marafi, Dana, Rosenfeld, Jill A., Coban-Akdemir, Zeynep, Bi, Weimin, Gibbs, Richard A., Hobson, Grace M., Hunter, Jill V., Carvalho, Claudia M.B., Posey, Jennifer E., Semina, Elena V., Lupski, James R.

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Germline Mutations in RASA1 Are Not Found in Patients with Klippel-Trenaunay Syndrome or Capillary Malformation with Limb Overgrowth von Revencu, N., Boon, L.M., Dompmartin, A., Rieu, P., Busch, W.L., Dubois, J., Forzano, F., van Hagen, J.M., Halbach, S., Kuechler, A., Lachmeijer, A.M.A., Lähde, J., Russell, L., Simola, K.O.J., Mulliken, J.B., Vikkula, M.

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Change in paternity: a risk factor for preeclampsia in multiparous women? von Tubbergen, P, Lachmeijer, A.M.A, Althuisius, S.M, Vlak, M.E.J, van Geijn, H.P, Dekker, G.A

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High-yield identification of pathogenic NF1 variants by skin fibroblast transcriptome screening after apparently normal diagnostic DNA testing von Douben, H.C.W., Nellist, M., Unen, L. van, Elfferich, P., Kasteleijn, E., Hoogeveen-Westerveld, M., Louwen, J., Veghel-Plandsoen, M. van, Valk, W. de, Saris, J.J., Hendriks, F., Korpershoek, E., Hoefsloot, L.H., Vliet, M. van, Bever, Y. van, Laar, I. van de, Aten, E., Lachmeijer, A.M.A., Taal, W., Bersselaar, L. van den, Schuurmans, J., Oostenbrink, R., Minkelen, R. van, Ierland, Y. van, Ham, T.J. van

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Supplementary Material for: Diagnostic gene panel testing in (non)-syndromic patients with cleft lip, alveolus and/or palate in the Netherlands von L.F., Wurfbain, I.L., Cox, M.F., vanDooren, A.M.A., Lachmeijer, V.J.M., Verhoeven, J.M., vanHagen, M., Heijligers, J.S., KleinWassink-Ruiter, S., Koene, S.M., Maas, H.E., Veenstra-Knol, J.K., PloosvanAmstel, M.P.G., Massink, A.B., MinkvanderMolen, M.-J.H., vandenBoogaard

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European Guideline Robin Sequence An Initiative From the European Reference Network for Rare Craniofacial Anomalies and Ear, Nose and Throat Disorders (ERN-CRANIO) von Abadie, V, Bohorquez, D, Bulstrode, N.W, Davies, Gareth, Hakelius, M, Ong, J, Mathijssen, I.M.J, Matos, E, Mazzoleni, F, van der Molen, A. Mink, Muradin, M, Neovius, E, Piacentile, K, Redondo, M, Vuola, P, Wolvius, E.B, Reinert, Siegmar, Murray, Dylan, Peterson, Petra, Hens, Greet, Schachner, P, Sivertsen, A, Irvine, W.F.E, Welling-van Overveld, L.F.J, van Breugel, M, van Schalkwijk, K, Verhey, E, Khan, A, Baillie, L, Bishop, N, Hillyar, C.R.T, Koudstaal, M.J, van de lande, L, Nibber, A, Panciewicz, N, Ramjeeawan, A, Bouter, A, El Ghoul, K, Logjes, B, van der Plas, P, Kats, J, Weissbach, E, van Veen-van der Hoek, M, Bittermann, A.J.N, van den Boogaard, M.-J.H, Coenraad, S, Dulfer, K, Joosten, K, Lachmeijer, A.M.A, Muradin, M.S.M, Peters, N.C.J, Pleumeekers, M, de Veye, H. Swanenburg

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European multicentre studies in the field of Obstetrics von van Geijn, H.P., Lachmeijer, A.M.A., Copray, F.J.A.

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