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10 Most Recent Publications
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Cellular interference in craniofrontonasal syndrome: Males mosaic for mutations in the x-linked EFNB1 gene are more severely affected than true hemizygotes
(Article)
Twigg, S.R.F. Babbs, C. Knight, S.J.L. Zechi-Ceide, R.M. Hoogeboom, A.J.M. Pober, B.R. Toriello, H.V. Wall, S.A. Passos-Bueno, M.R. Brunner, H.G. Mathijssen, I.M.J. Wilkie, A.O.M. Elzen, M.E.P. van den Goriely, A. Taylor, S. Mcgowan, S.J. Giannoulatou, E Lonie, L. Ragoussis, J. Akha, E.S. |
2013-04-01
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Complex genetics of radial ray deficiencies: Screening of a cohort of 54 patients
(Article)
Vergult, S. Hoogeboom, A.J.M. Esch, J.H.M. van Kuechler, A. Barge-Schaapveld, D.Q.C.M. Sznajer, Y. Mortier, G. Menten, B. Bijlsma, E. Sante, T. Klopocki, E. Wilde, B. de Jongmans, M. Thiel, C. Verheij, J.B. Perez-Aytes, A. |
2013-03-01
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Brachydactyly: A rare complication of sickle cell anaemia
(Article)
Bosch, D.G.M. Nieuwenhoven, C.A. van Hoogeboom, A.J.M. |
2011-07-01
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Additional phenotypic features of Muenke syndrome in 2 Dutch families
(Article)
Jong, T. de Mathijssen, I.M.J. Hoogeboom, A.J.M. |
2011-03-01
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Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome
(Article)
Dauwerse, J.G. Dixon, J. Zweier, C. Kerr, B. Cobo, A.M. Toral, J.F. Hoogeboom, A.J.M. Lohmann, D.R. Hehr, U. Dixon, M.J. Breuning, M.H. Wieczorek, D. Seland, S. Ruivenkamp, C.A. Haeringen, A. van Hoefsloot, L.H. Peters, D.J.M. Boers, A.C.-d. Daumer-Haas, C. Maiwald, R. |
2010-12-05
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Long-term functional outcome in 167 patients with syndromic craniosynostosis; Defining a syndrome-specific risk profile
(Article)
Jong, A.A.W. de Bannink, N. Adrichem, L.N.A. van Vaandrager, J.M. Ongkosuwito, E.M. Joosten, K.F.M. Mathijssen, I.M.J. Bredero-Boelhouwer, H.H. Veelen, M.L.C. van Bartels, M.C. Hoeve, L.J. Hoogeboom, A.J.M. Wolvius, E.B. Leguin, M. Meulen, J.J.N.M. van der |
2010-10-01
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Low grade mosaic for a complex supernumerary ring chromosome 18 in an adult patient with multiple congenital anomalies
(Article)
Veken, L.T. van der Dieleman, M.M.J. Douben, H. Brug, J.C. van de Graaf, R. van de Hoogeboom, A.J.M. Poddighe, P.J. Klein, J.E.M.M. de |
2010-07-13
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Periventricular nodular heterotopia and distal limb deficiency: A recurrent association
(Article)
Wit, M.C.Y. de Coo, I.F.M. de Schot, R. Hoogeboom, A.J.M. Leguin, M. Verkerk, J.H.M. Mancini, G.M.S. |
2010-04-01
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WNT5A mutations in patients with autosomal dominant Robinow syndrome
(Article)
Person, A.D. Beiraghi, S. Mazzeu, J.F. Petryk, A. Schimmenti, L.A. Brunner, H, Ekker, S.C. Lohr, J.L. Sieben, C.M. Hermanson, S. Neumann, A.N. Robu, M.E. Schleiffarth, J.R. Billington, C.J. Bokhoven, H. van Hoogeboom, A.J.M. |
2010-01-01
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Implication of long-distance regulation of the HOXA cluster in a patient with postaxial polydactyly
(Article)
Lodder, E.M. Eussen, B.H.J. Hassel, D.A.C.M. van Hoogeboom, A.J.M. Poddighe, P. Coert, J.H. Oostra, B.A. Klein, J.E.M.M. de Graaff, E. de |
2009-08-01
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