Jeune syndrome: description of 13 cases and a proposal for follow-up protocol
de Vries, J., Yntema, J. L., van Die, C. E., Crama, N., Cornelissen, E. A. M., Hamel, B. C. J.
Published in European journal of pediatrics (01.01.2010)
Published in European journal of pediatrics (01.01.2010)
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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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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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Myopathy in a 20-year-old female patient with D4ST-1 deficient Ehlers-Danlos syndrome due to a homozygous CHST14 mutation
Voermans, N.C., Kempers, M., Lammens, M., van Alfen, N., Janssen, M.C., Bönnemann, C., van Engelen, B.G., Hamel, B.C.
Published in American journal of medical genetics. Part A (01.04.2012)
Published in American journal of medical genetics. Part A (01.04.2012)
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Clinical and molecular characteristics of 1qter microdeletion syndrome: delineating a critical region for corpus callosum agenesis/hypogenesis
van Bon, B W M, Koolen, D A, Borgatti, R, Magee, A, Garcia-Minaur, S, Rooms, L, Reardon, W, Zollino, M, Bonaglia, M C, De Gregori, M, Novara, F, Grasso, R, Ciccone, R, van Duyvenvoorde, H A, Aalbers, A M, Guerrini, R, Fazzi, E, Nillesen, W M, McCullough, S, Kant, S G, Marcelis, C L, Pfundt, R, de Leeuw, N, Smeets, D, Sistermans, E A, Wit, J M, Hamel, B C, Brunner, H G, Kooy, F, Zuffardi, O, de Vries, B B A
Published in Journal of medical genetics (01.06.2008)
Published in Journal of medical genetics (01.06.2008)
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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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Clinical and molecular overlap between myopathies and inherited connective tissue diseases
Voermans, N.C, Bönnemann, C.G, Huijing, P.A, Hamel, B.C, van Kuppevelt, T.H, de Haan, A, Schalkwijk, J, van Engelen, B.G, Jenniskens, G.J
Published in Neuromuscular disorders : NMD (01.11.2008)
Published in Neuromuscular disorders : NMD (01.11.2008)
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Functional analysis of splice site mutations in the human hairless (HR) gene using a minigene assay
Refke, M., Pasternack, S.M., Fiebig, B., Wenzel, S., Ishorst, N., Ludwig, M., Nöthen, M.M., Seyger, M.M., Hamel, B.C., Betz, R.C.
Published in British journal of dermatology (1951) (01.11.2011)
Published in British journal of dermatology (1951) (01.11.2011)
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Freeman–Sheldon Syndrome: First Molecularly Confirmed Case from Sub-Saharan Africa
Hamel, Ben C. J., Kamsteeg, E.-J., Kinabo, Grace, Mbwasi, R. M., Ali, A. M., Dekker, Marieke C. J.
Published in Case reports in genetics (01.01.2017)
Published in Case reports in genetics (01.01.2017)
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Zinc finger 81 (ZNF81) mutations associated with X-linked mental retardation
Kleefstra, T, Yntema, H G, Oudakker, A R, Banning, M J G, Kalscheuer, V M, Chelly, J, Moraine, C, Ropers, H-H, Fryns, J-P, Janssen, I M, Sistermans, E A, Nillesen, W N, de Vries, L B A, Hamel, B C J, van Bokhoven, H
Published in Journal of medical genetics (01.05.2004)
Published in Journal of medical genetics (01.05.2004)
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Compound-heterozygous Marfan syndrome
Van Dijk, F.S, Hamel, B.C, Hilhorst-Hofstee, Y, Mulder, B.J.M, Timmermans, J, Pals, G, Cobben, J.M
Published in European journal of medical genetics (01.01.2009)
Published in European journal of medical genetics (01.01.2009)
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Pure subtelomeric microduplications as a cause of mental retardation
Ruiter, EM, Koolen, DA, Kleefstra, T, Nillesen, WM, Pfundt, R, De Leeuw, N, Hamel, BCJ, Brunner, HG, Sistermans, EA, De Vries, BBA
Published in Clinical genetics (01.10.2007)
Published in Clinical genetics (01.10.2007)
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The fragile X-associated tremor ataxia syndrome (FXTAS) in Indonesia
Winarni, T I, Mundhofir, F E P, Ediati, A, Belladona, M, Nillesen, W M, Yntema, H G, Hamel, B C J, Faradz, S M H, Hagerman, R J
Published in Clinical genetics (01.03.2013)
Published in Clinical genetics (01.03.2013)
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Neuromuscular features in Marfan syndrome
Voermans, NC, Timmermans, J, Van Alfen, N, Pillen, S, Op Den Akker, J, Lammens, M, Zwarts, MJ, Van Rooij, IALM, Hamel, BC, Van Engelen, BG
Published in Clinical genetics (01.07.2009)
Published in Clinical genetics (01.07.2009)
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PRKN-related familial Parkinson's disease: First molecular confirmation from East Africa
Dekker, M.C.J., Suleiman, J.M., Bhwana, D., Howlett, W.P., Rashid, S.M., van Minkelen, R., Hamel, B.C.
Published in Parkinsonism & related disorders (01.04.2020)
Published in Parkinsonism & related disorders (01.04.2020)
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