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VERHOOG, L. C, BREKELMANS, C. T. M, VAN DEN OUWELAND, A. M. W, MEIJERS-HEIJBOER, E. J, KLIJN, J. G. M, SEYNAEVE, C, DAHMEN, G, VAN GEEL, A. N, BARTELS, C. C. M, TILANUS-LINTHORST, M. M. A, WAGNER, A, DEVILEE, P, HALLEY, D. J. J
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Published in Journal of clinical oncology (01.11.1999)
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Nellist, M, Goedbloed, M A, Halley, D J J
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DMO01 Cortical brain malformations: impact of clinical, neuroradiological and modern genetic classification
de Wit, M.C.Y, Lequin, M.H, de Coo, I.F.M, Brusse, E, Halley, D.J.J, van de Graaf, R, Dobyns, W.B, Schot, R, Verheijen, F.W, Mancini, G.M.S
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Published in European journal of paediatric neurology (2007)
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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.
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Multiplex ligation-depending probe amplification is not suitable for detection of low-grade mosaicism
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Published in European journal of human genetics : EJHG (01.09.2011)
Published in European journal of human genetics : EJHG (01.09.2011)
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Characterisation of TSC1 promoter deletions in tuberous sclerosis complex patients
VAN DEN OUWELAND, Ans Mw, ELFFERICH, Peter, ZONNENBERG, Bernard A, ARTS, Willem F, KLEEFSTRA, Tjitske, NELLIST, Mark D, MILLAN, Jose M, WITHAGEN-HERMANS, Caroline, MAAT-KIEVIT, Anneke Ja, HALLEY, Dicky Jj
Published in European journal of human genetics : EJHG (01.02.2011)
Published in European journal of human genetics : EJHG (01.02.2011)
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Cystic fibrosis allele segregation
Published in Nature (London)
(07.07.1988)
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Large regional differences in the frequency of distinct BRCA1/BRCA2 mutations in 517 Dutch breast and/or ovarian cancer families
Verhoog, L.C., van den Ouweland, A.M.W., Berns, E., van Veghel-Plandsoen, M.M., van Staveren, I.L., Wagner, A., Bartels, C.C.M., Tilanus-Linthorst, M.M.A., Devilee, P., Seynaeve, C., Halley, D.J.J., Niermeijer, M.F., Klijn, J.G.M., Meijers-Heijboer, H.
Published in European journal of cancer (1990) (01.11.2001)
Published in European journal of cancer (1990) (01.11.2001)
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The complex relationships between cystic fibrosis and congenital bilateral absence of the vas deferens: clinical, electrophysiological and genetic data
Dohle, G.R., Veeze, H.J., Overbeek, S.E., van den Ouweland, A.M.W., Halley, D.J.J., Weber, R.F.A., Niermeijer, M.F.
Published in Human reproduction (Oxford) (01.02.1999)
Published in Human reproduction (Oxford) (01.02.1999)
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Published in Human reproduction (Oxford) (01.01.2002)
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Published in Human reproduction (Oxford) (01.01.2002)
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Geographic distribution within the Netherlands of families with specific mutations in EIRCA1 and BRCA2
Verhoog, L, Meijers-Heijboer, E.J., Wagner, A., Seynaeve, C., van den Ouweland, A.M.W., Halley, D.J.J., Devilee, P., Klijn, J.G.M.
Published in European journal of cancer (1990) (01.09.1998)
Published in European journal of cancer (1990) (01.09.1998)
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Laboratoriumonderzoek van erfelijke metabole ziekten: lysosomale stapelingsziekten
Ruijter, G.J.G., van Diggelen, O.P., Verheijen, F.W., Schoonderwoerd, G.C., Brüggenwirth, H.T., Mancini, G.M.S., Halley, D.J.J., Huijmans, J.G.M.
Published in Tijdschrift voor kindergeneeskunde (2010)
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Recurrent mutation 4882delTT in the GAP-related domain of the tuberous sclerosis TSC2 gene
Verhoef, S., Vrtel, R., Bakker, L., Stolte-Dijkstra, I., Nellist, M., Begeer, J.H., Zaremba, J., Jozwiak, S., Tempelaars, A.M.P., Lindhout, D., Halley, D.J.J., van den Ouweland, A.M.W.
Published in Human mutation (1998)
Published in Human mutation (1998)
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Identification of a large insertion and two novel point mutations (3671del8 and S1221X) in tuberous sclerosis complex (TSC) patients
Wang, Q, Verhoef, S, Tempelaars, AMP, Bakker, PLG, Vrtel, R, Hesseling-Janssen, ALW, Nellist, M, Oranje, AP, Stroink, H, Lindhout, D, Halley, DJJ, van den Ouweland, AMW
Published in Human mutation (1998)
Published in Human mutation (1998)
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Genetic heterogeneity in tuberous sclerosis
Janssen, L.A.J., Sandkuyl, L.A., Merkens, E.C., Maat-Kievit, J.A., Sampson, J.R., Fleury, P., Hennekam, R.C.M., Grosveld, G.C., Lindhout, D., Halley, D.J.J.
Published in Genomics (San Diego, Calif.) (01.10.1990)
Published in Genomics (San Diego, Calif.) (01.10.1990)
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New polymorphic DNA marker close to the fragile site FRAXA
Oostra, B.A., Hupkes, P.E., Perdon, L.F., van Bennekom, C.A., Bakker, E., Halley, D.J.J., Schmidt, M., Du Sart, D., Smits, A., Wieringa, B., van Oost, B.A.
Published in Genomics (San Diego, Calif.) (1990)
Published in Genomics (San Diego, Calif.) (1990)
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