Auditory change detection in fragile X syndrome males: A brain potential study
Van der Molen, M.J.W, Van der Molen, M.W, Ridderinkhof, K.R, Hamel, B.C.J, Curfs, L.M.G, Ramakers, G.J.A
Published in Clinical neurophysiology (01.07.2012)
Published in Clinical neurophysiology (01.07.2012)
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Journal Article
Auditory and visual cortical activity during selective attention in fragile X syndrome: A cascade of processing deficiencies
Van der Molen, M.J.W, Van der Molen, M.W, Ridderinkhof, K.R, Hamel, B.C.J, Curfs, L.M.G, Ramakers, G.J.A
Published in Clinical neurophysiology (01.04.2012)
Published in Clinical neurophysiology (01.04.2012)
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Journal Article
G.P.1.08 Myopathy and radiculopathy in Marfan syndrome
Voermans, N.C, Pillen, S, Zwarts, M.J, Lammens, M, Timmermans, J, Rooij, I.M, Hamel, B.C.J, van Engelen, B.G.M
Published in Neuromuscular disorders : NMD (01.10.2008)
Published in Neuromuscular disorders : NMD (01.10.2008)
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Journal Article
Attentional set-shifting in fragile X syndrome
Van der Molen, M.J.W., Van der Molen, M.W., Ridderinkhof, K.R., Hamel, B.C.J., Curfs, L.M.G., Ramakers, G.J.A.
Published in Brain and cognition (01.04.2012)
Published in Brain and cognition (01.04.2012)
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Journal Article
Adult Phenotypes in Angelman- and Rett-Like Syndromes
Willemsen, M.H., Rensen, J.H.M., van Schrojenstein-Lantman de Valk, H.M.J., Hamel, B.C.J., Kleefstra, T.
Published in Molecular syndromology (01.04.2012)
Published in Molecular syndromology (01.04.2012)
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Journal Article
Renpenning syndrome comes into focus
Stevenson, Roger E., Bennett, C.W., Abidi, F., Kleefstra, T., Porteous, M., Simensen, R.J., Lubs, H.A., Hamel, B.C.J., Schwartz, C.E.
Published in American journal of medical genetics. Part A (01.05.2005)
Published in American journal of medical genetics. Part A (01.05.2005)
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Journal Article
Aicardi-Goutières Syndrome Displays Genetic Heterogeneity with One Locus ( AGS1) on Chromosome 3p21
Crow, Y.J., Jackson, A.P., Roberts, E., van Beusekom, E., Barth, P., Corry, P., Ferrie, C.D., Hamel, B.C.J., Jayatunga, R., Karbani, G., Kálmánchey, R., Kelemen, A., King, M., Kumar, R., Livingstone, J., Massey, R., McWilliam, R., Meager, A., Rittey, C., Stephenson, J.B.P., Tolmie, J.L., Verrips, A., Voit, T., van Bokhoven, H., Brunner, H.G., Woods, C.G.
Published in American journal of human genetics (01.07.2000)
Published in American journal of human genetics (01.07.2000)
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Journal Article
Cryptic duplication of the distal segment of 22q due to a translocation (21;22): three case reports and a review of the literature
Feenstra, I., Koolen, D.A., Van der Pas, J., Hamel, B.C.J., Mieloo, H., Smeets, D.F.C.M., Van Ravenswaaij, C.M.A
Published in European journal of medical genetics (01.09.2006)
Published in European journal of medical genetics (01.09.2006)
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Journal Article
Intestinal mucosa on top of a rudimentary occipital meningocele in amniotic rupture sequence: disorganization-like syndrome, homeotic transformation, abnormal surface encounter or endoectodermal adhesion?
ten Donkelaar, H J, Hamel, B C J, Hartman, E, van Lier, J A C, Wesseling, P
Published in Clinical dysmorphology (01.01.2002)
Published in Clinical dysmorphology (01.01.2002)
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Journal Article
Six novel mutations in the alpha-galactosidase A gene in families with Fabry disease
Ploos van Amstel, J K, Jansen, R P, de Jong, J G, Hamel, B C, Wevers, R A
Published in Human molecular genetics (01.03.1994)
Published in Human molecular genetics (01.03.1994)
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Journal Article
Localization of Alagille syndrome to 20p11.2-p12 by linkage analysis of a three-generation family
Hol, F A, Hamel, B C, Geurds, M P, Hansmann, I, Nabben, F A, Daniëls, O, Mariman, E C
Published in Human genetics (01.06.1995)
Published in Human genetics (01.06.1995)
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Journal Article
Influence of sex of the transmitting parent as well as of parental allel size on the CTG expansion in myotonic dystrophy (DM)
Brunner, H.G., Brueggenwirth, H.T., Nillesen, W., Hamel, B.C.J., Hoppe, R.L.E., Oost, B.A. van, Ropers, H.H., Smeets, H.J.M., Jansen, G., Die, C.E.M. de, Hoeweler, C.J. Wieringa, B.
Published in American journal of human genetics (01.11.1993)
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Published in American journal of human genetics (01.11.1993)
Journal Article
Deletion at chromosome 16p13. 3 as a cause of Rubinstein-Taybi syndrome: Clinical aspects
Hennekam, R.C.M., Tilanus, M., Boogaard, M.J.H. van den, Hamel, B.C.J., Voshart-van Heeren, H., Mariman, E.C.M., Beersum, S.E.C. van, Breuning, M.H.
Published in American journal of human genetics (01.02.1993)
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Published in American journal of human genetics (01.02.1993)
Journal Article
Exclusion mapping of the gene for X-linked neural tube defects in an Icelandic family
Hol, F A, Geurds, M P, Jensson, O, Hamel, B C, Moore, G E, Newton, R, Mariman, E C
Published in Human genetics (01.04.1994)
Published in Human genetics (01.04.1994)
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Journal Article
Rubinstein-Taybi syndrome caused by submicroscopic deletions within 16p13. 3
Breuning, M.H., Dauwerse, H.G., Fugazza, G., Saris, J.J., Spruit, L., Winjnen, H., Beverstock, G.C., Ommen, G.J.B. van, Tommerup, N., Hagen, C.B. van der, Imaizumi, Kiyoshi, Kuroki, Yoshikazu, Boogaard, M.J. van den, Pater, J.M. de, Hennekam, R.C.M., Mariman, E.C.M., Hamel, B.C.J., Himmelbauer, H., Frischauf, A.M., Stallings, R.L.
Published in American journal of human genetics (01.02.1993)
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Published in American journal of human genetics (01.02.1993)
Journal Article