Movement disorder and neuronal migration disorder due to ARFGEF2 mutation
de Wit, M. C. Y., de Coo, I. F. M., Halley, D. J. J., Lequin, M. H., Mancini, G. M. S.
Published in Neurogenetics (01.10.2009)
Published in Neurogenetics (01.10.2009)
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Frequency of Von Hippel-Lindau germline mutations in classic and non-classic Von Hippel-Lindau disease identified by DNA sequencing, Southern blot analysis and multiplex ligation-dependent probe amplification
Hes, FJ, van der Luijt, RB, Janssen, ALW, Zewald, RA, de Jong, GJ, Lenders, JW, Links, TP, Luyten, GPM, Sijmons, RH, Eussen, HJ, Halley, DJJ, Lips, CJM, Pearson, PL, van den Ouweland, AMW, Majoor-Krakauer, DF
Published in Clinical genetics (01.08.2007)
Published in Clinical genetics (01.08.2007)
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Chloride conductance and genetic background modulate the cystic fibrosis phenotype of Delta F508 homozygous twins and siblings
Bronsveld, I, Mekus, F, Bijman, J, Ballmann, M, de Jonge, H R, Laabs, U, Halley, D J, Ellemunter, H, Mastella, G, Thomas, S, Veeze, H J, Tümmler, B
Published in The Journal of clinical investigation (01.12.2001)
Published in The Journal of clinical investigation (01.12.2001)
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Differential localization of hamartin and tuberin and increased S6 phosphorylation in a tuber
Jansen, F E, Notenboom, R G E, Nellist, M, Goedbloed, M A, Halley, D J, de Graan, P N E, van Nieuwenhuizen, O
Published in Neurology (12.10.2004)
Published in Neurology (12.10.2004)
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A clinical and genetic overview of 18 years neurofibromatosis type 1 molecular diagnostics in the Netherlands
van Minkelen, R., van Bever, Y., Kromosoeto, J.N.R., Withagen-Hermans, C.J., Nieuwlaat, A., Halley, D.J.J., van den Ouweland, A.M.W.
Published in Clinical genetics (01.04.2014)
Published in Clinical genetics (01.04.2014)
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Malignant pancreatic tumour within the spectrum of tuberous sclerosis complex in childhood
VERHOEF, S, VAN DIEMEN-STEENVOORDE, R, LIPS, K, VAN DEN OUWELAND, A. M. W, AKKERSDIJK, W. L, BAX, N. M. A, ARIYUREK, Y, HERMANS, C. J, VAN NIEUWENHUIZEN, O, NIKKELS, P. G. J, LINDHOUT, D, HALLEY, D. J. J
Published in European journal of pediatrics (01.04.1999)
Published in European journal of pediatrics (01.04.1999)
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Mental status of females with an FMR1 gene full mutation
DE VRIES, B. B. A, WIEGERS, A. M, NIERMEIJER, M. F, SMITS, A. P. T, MOHKAMSING, S, DUIVENVOORDEN, H. J, FRYNS, J.-P, CURFS, L. M. G, HALLEY, D. J. J, OOSTRA, B. A, VAN DEN OUWELAND, A. M. W
Published in American journal of human genetics (01.05.1996)
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Published in American journal of human genetics (01.05.1996)
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The spectrum of mutations in UBE3A causing Angelman syndrome
PING FANG, LEV-LEHMAN, E, LANGLOIS, S, GRAHAM, J. M, BEUTEN, J, WILLEMS, P. J, LEDBETTER, D. H, BEAUDET, A. L, TSAI, T.-F, MATSUURA, T, BENTON, C. S, SUTCLIFFE, J. S, CHRISTIAN, S. L, KUBOTA, T, HALLEY, D. J, MEIJERS-HEIJBOER, H
Published in Human molecular genetics (1999)
Published in Human molecular genetics (1999)
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Broad spectrum of Pompe disease in patients with the same c.-32-13T->G haplotype
Kroos, M A, Pomponio, R J, Hagemans, M L, Keulemans, J L M, Phipps, M, DeRiso, M, Palmer, R E, Ausems, M G E M, Van der Beek, N A M E, Van Diggelen, O P, Halley, D J J, Van der Ploeg, A T, Reuser, A J J
Published in Neurology (09.01.2007)
Published in Neurology (09.01.2007)
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A prospective 10 year follow up study of patients with neurofibromatosis type 1
Cnossen, M H, de Goede-Bolder, A, van den Broek, K M, Waasdorp, C M E, Oranje, A P, Stroink, H, Simonsz, H J, van den Ouweland, A M W, Halley, D J J, Niermeijer, M F
Published in Archives of disease in childhood (01.05.1998)
Published in Archives of disease in childhood (01.05.1998)
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Partial Cosegregation of Familial Hemiplegic Migraine and a Benign Familial Infantile Epileptic Syndrome
Terwindt, G. M., Ophoff, R. A., Lindhout, D., Haan, J., Halley, D. J. J., Sandkuijl, L. A., Brouwer, O. F., Frants, R. R., Ferrari, M. D.
Published in Epilepsia (Copenhagen) (01.08.1997)
Published in Epilepsia (Copenhagen) (01.08.1997)
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Gene symbol: KCNQ2. Disease: Benign neonatal familial convulsion
Pinto, D, de Haan, G-J, Carton, D, Bader, A, Witte, J, Peters, E, van Erp, M G, Vandereyken, W, Boezeman, E H J F, Boon, P, Halley, D J J, Koeleman, B P C, Lindhout, D
Published in Human genetics (01.07.2005)
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Published in Human genetics (01.07.2005)
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