The Origin of EFNB1 Mutations in Craniofrontonasal Syndrome: Frequent Somatic Mosaicism and Explanation of the Paucity of Carrier Males von Twigg, Stephen R.F., Matsumoto, Kazuya, Kidd, Alexa M.J., Goriely, Anne, Taylor, Indira B., Fisher, Richard B., Hoogeboom, A. Jeannette M., Mathijssen, Irene M.J., Lourenço, M. Teresa, Morton, Jenny E.V., Sweeney, Elizabeth, Wilson, Louise C., Brunner, Han G., Mulliken, John B., Wall, Steven A., Wilkie, Andrew O.M.

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Boston type craniosynostosis: Report of a second mutation in MSX2 von Florisson, Joyce M.G., Verkerk, Annemieke J.M.H., Huigh, Daphne, Hoogeboom, A. Jeannette M., Swagemakers, Sigrid, Kremer, Andreas, Heijsman, Daphne, Lequin, Maarten H., Mathijssen, Irene M.J., van der Spek, Peter J.

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Complex genetics of radial ray deficiencies: screening of a cohort of 54 patients von Vergult, Sarah, Hoogeboom, A. Jeannette M., Bijlsma, Emilia K., Sante, Tom, Klopocki, Eva, De Wilde, Bram, Jongmans, Marjolijn, Thiel, Christian, Verheij, Joke BGM, Perez-Aytes, Antonio, Van Esch, Hilde, Kuechler, Alma, Barge-Schaapveld, Daniela QCM, Sznajer, Yves, Mortier, Geert, Menten, Björn

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Early prenatal sonographic diagnosis and follow‐up of Jeune syndrome von Den Hollander, N. S., Robben, S. G. F., Hoogeboom, A. J. M., Niermeijer, M. F., Wladimiroff, J. W.

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Early diagnosis of Wolf–Hirschhorn syndrome triggered by a life‐threatening event: Congenital diaphragmatic hernia von van Dooren, M.F., Brooks, A.S., Hoogeboom, A.J.M., van den Hoonaard, T.L., de Klein, J.E.M.M., Wouters, C.H., Tibboel, D.

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Deletion of the TWIST gene in a large five-generation family von De Heer, IM, Hoogeboom, AJM, Eussen, HJ, Vaandrager, JM, De Klein, A

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Prenatal diagnosis of type A1 brachydactyly von Den Hollander, N. S., Hoogeboom, A. J. M., Niermeijer, M. F., Wladimiroff, J. W.

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Linkage analysis with chromosome 15q11-13 markers shows genomic imprinting in familial Angelman syndrome von Meijers-Heijboer, E J, Sandkuijl, L A, Brunner, H G, Smeets, H J, Hoogeboom, A J, Deelen, W H, van Hemel, J O, Nelen, M R, Smeets, D F, Niermeijer, M F

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Identification of causative variants in TXNL4A in Burn-McKeown Syndrome and isolated choanal atresia von Goos, JAC, Swagemakers, SMA, Twigg, SRF, van Dooren, MF, Hoogeboom, AJM, Beetz, C, Günther, S, Magielsen, FJ, Ockeleon, CW, Ramos-Arroyo, M, Pfundt, R, Yntema, HG, van der Speck, PJ, Stanier, PM, Wieczorek, D, Wilkie, AOM, van den Ouweland, AMW, Mathijssen, IMJ, Hurst, J

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Pfeiffer's syndrome resulting from an S351C mutation in the fibroblast growth factor receptor-2 gene von Mathijssen, I M, Vaandrager, J M, Hoogeboom, A J, Hesseling-Janssen, A L, van den Ouweland, A M

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Gain-of-Function Mutations in ZIC1 Are Associated with Coronal Craniosynostosis and Learning Disability von Twigg, SRF, Forecki, J, Goos, JAC, Richardson, ICA, Hoogeboom, AJM, van den Ouweland, AMW, Swagemakers, SMA, Lequin, MH, Van Antwerp, D, McGowan, SJ, Westbury, I, Miller, KA, Wall, SA, Van der Spek, PJ, Mathijssen, IMJ, Pauws, E, Merzdorf, CS, Wilkie, AOM

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Linkage analysis in X-linked adrenoleukodystrophy and application in post- and prenatal diagnosis von VAN OOST, B. A, VAN ZANDVOORT, P. M, TÜNTE, W, BRUNNER, H. G, HOOGEBOOM, A. J. M, MAASWINKEL-MOOY, P. D, BAKKEREN, J, HAMEL, B, ROPERS, H. H

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Interstitial del(13)(q21.3q31) associated with psychomotor retardation, eczema, and absent suck and swallowing reflex von Peet, P J, Pereira, R R, Van Hemel, J O, Hoogeboom, A J

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Clinical evidence for localisation of HLA proximal of chromosome 6p22 von Sachs, E S, Hoogeboom, A J, Niermeijer, M F, Schreuder, G M

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CLINICAL EVIDENCE FOR LOCALISATION OF HLA PROXIMAL OF CHROMOSOME 6p22 von Sachs, E.S., Hoogeboom, A.J.M., Niermeijer, M.F., Schreuder, G.M.Th

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Differences in complexity of isolated brachydactyly type C cannot be attributed to locus heterogeneity alone von Galjaard, R.J.H., van der Ham, L.I., Posch, N.A.S., Dijkstra, P.F., Oostra, B.A., Hovius, S.E.R., Timmenga, E.J.F., Sonneveld, G.J., Hoogeboom, A.J.M., Heutink, P.

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Somatic cell hybridisation studies showing different gene mutations in Niemann-Pick variants von Besley, G T, Hoogeboom, A J, Hoogeveen, A, Kleijer, W J, Galjaard, H

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