Loss of nuclear activity of the FBXO7 protein in patients with parkinsonian-pyramidal syndrome (PARK15)
Zhao, Tianna, De Graaff, Esther, Breedveld, Guido J, Loda, Agnese, Severijnen, Lies-Anne, Wouters, Cokkie H, Verheijen, Frans W, Dekker, Marieke C J, Montagna, Pasquale, Willemsen, Rob, Oostra, Ben A, Bonifati, Vincenzo
Published in PloS one (11.02.2011)
Published in PloS one (11.02.2011)
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Selective chromosome analysis in couples with two or more miscarriages: case-control study
Franssen, Maureen T M, Korevaar, Johanna C, Leschot, Nico J, Bossuyt, Patrick M M, Knegt, Alida C, Gerssen-Schoorl, Klasien B J, Wouters, Cokkie H, Hansson, Kerstin B M, Hochstenbach, Ron, Madan, Kamlesh, van der Veen, Fulco, Goddijn, Mariette
Published in BMJ (16.07.2005)
Published in BMJ (16.07.2005)
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Multiplex ligation-depending probe amplification is not suitable for detection of low-grade mosaicism
VAN VEGHEL-PLANDSOEN, Monique M, WOUTERS, Cokkie H, KROMOSOETO, Joan N. R, DEN RIDDER-KLÜNNEN, Mariska C, HALLEY, Dicky J. J, VAN DEN OUWELAND, Ans M. W
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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Clinical and genetic analysis of patients with Saethre-Chotzen syndrome
de Heer, Inge Marieke, de Klein, Annelies, van den Ouweland, Ans M, Vermeij-Keers, Christl, Wouters, Cokkie H, Vaandrager, Jan Michiel, Hovius, Steven E R, Hoogeboom, Jeannette M
Published in Plastic and reconstructive surgery (1963) (01.06.2005)
Published in Plastic and reconstructive surgery (1963) (01.06.2005)
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Incidental finding of alpha‐methylacyl‐CoA racemase deficiency in a patient with oculocutaneous albinism type 4
Verhagen, Judith M.A., Huijmans, Jan G., Williams, Monique, van Ruyven, Rutger L.J., Bergen, Arthur A.B., Wouters, Cokkie H., Brooks, Alice S.
Published in American journal of medical genetics. Part A (01.11.2012)
Published in American journal of medical genetics. Part A (01.11.2012)
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Complete FXN deletion in a patient with Friedreich's ataxia
van den Ouweland, Ans M W, van Minkelen, Rick, Bolman, Galhana M, Wouters, Cokkie H, Becht-Noordermeer, Cindy, Deelen, Wout H, Deelen-Manders, J Marianne C, Ippel, Elly P F, Saris, Jasper, Halley, Dicky J J
Published in Genetic testing and molecular biomarkers (01.09.2012)
Published in Genetic testing and molecular biomarkers (01.09.2012)
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A t(4;6)(q12;p23) translocation disrupts a membrane-associated O-acetyl transferase gene (MBOAT1) in a patient with a novel brachydactyly-syndactyly syndrome
DAUWERSE, Johannes G, DE VRIES, Bert B. A, WOUTERS, Cokkie H, BAKKER, Egbert, RAPPOLD, Gudrun, MORTIER, Geert R, BREUNING, Martijn H, PETERS, Dorien J. M
Published in European journal of human genetics : EJHG (01.07.2007)
Published in European journal of human genetics : EJHG (01.07.2007)
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Interstitial 11q deletion derived from a maternal ins(4;11)(p14;q24.2q25): A patient report and review
Van Zutven, Laura J.C.M., van Bever, Yolande, Van Nieuwland, Carolien C.M., Huijbregts, Gido C.M., Van Opstal, Diane, von Bergh, Anne R.M., Corel, Linda J.A., Tibboel, Dick, Wouters, Cokkie H., Poddighe, Pino J.
Published in American journal of medical genetics. Part A (01.07.2009)
Published in American journal of medical genetics. Part A (01.07.2009)
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Comparing two diagnostic laboratory tests for Williams syndrome: fluorescent in situ hybridization versus multiplex ligation-dependent probe amplification
van Hagen, Johanna M, Eussen, Hubertus J F M M, van Schooten, Ron, van Der Geest, Josef N, Lagers-van Haselen, Gerardina C, Wouters, Cokkie H, De Zeeuw, Chris I, Gille, Johan J P
Published in Genetic testing (01.09.2007)
Published in Genetic testing (01.09.2007)
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Isolated postaxial polydactyly type B with mosaicism of a submicroscopic unbalanced translocation leading to an extended phenotype in offspring
Galjaard, Robert‐Jan H., van der Linde, Herma C., Eussen, Bert H. J., de Vries, Bert B. A., Wouters, Cokkie H., Oostra, Ben A., Graaff, Esther de, Heutink, Peter
Published in American journal of medical genetics. Part A (30.08.2003)
Published in American journal of medical genetics. Part A (30.08.2003)
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A Rett syndrome patient with a ring X chromosome: further evidence for skewing of X inactivation and heterogeneity in the aetiology of the disease
Rosenberg, C, Wouters, C H, Szuhai, K, Dorland, R, Pearson, P, Poll-The, B T, Colombijn, R M, Breuning, M, Lindhout, D
Published in European journal of human genetics : EJHG (01.03.2001)
Published in European journal of human genetics : EJHG (01.03.2001)
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Interstitial 11q Deletion Derived From a Maternal ns(4;11) (p14;q24.2q25): A Patient Report and Review
VAN ZUTVEN, Laura J. C. M, VAN BEVER, Yolande, VAN NIEUWLAND, Carolien C. M, HUIJBREGTS, Gido C. M, VAN OPSTAL, Diane, VON BERGH, Anne R. M, COREL, Linda J. A, TIBBOEL, Dick, WOUTERS, Cokkie H, PODDIGHE, Pino J
Published in American journal of medical genetics. Part A (2009)
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Published in American journal of medical genetics. Part A (2009)
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The murine CYLN2 gene : Genomic organization, chromosome localization, and comparison to the human gene that is located within the 7q11.23 Williams syndrome critical region
HOOGENRAAD, C. C, EUSSEN, B. H. J, LANGEVELD, A, VAN HAPEREN, R, WINTERBERG, S, WOUTERS, C. H, GROSVELD, F, DE ZEEUW, C. I, GALJART, N
Published in Genomics (San Diego, Calif.) (01.11.1998)
Published in Genomics (San Diego, Calif.) (01.11.1998)
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The MurineCYLN2Gene: Genomic Organization, Chromosome Localization, and Comparison to the Human Gene That Is Located within the 7q11.23 Williams Syndrome Critical Region
Hoogenraad, Casper C, Eussen, Bert H.J, Langeveld, An, van Haperen, Rien, Winterberg, Suzanne, Wouters, Cokkie H, Grosveld, Frank, De Zeeuw, Chris I, Galjart, Niels
Published in Genomics (San Diego, Calif.) (01.11.1998)
Published in Genomics (San Diego, Calif.) (01.11.1998)
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Incidental finding of alpha-methylacyl-CoA racemase deficiency in a patient with oculocutaneous albinism type 4
Verhagen, Judith M.A., Huijmans, Jan G., Williams, Monique, van Ruyven, Rutger L.J., Bergen, Arthur A.B., Wouters, Cokkie H., Brooks, Alice S.
Published in American Journal of Medical Genetics Part A (01.11.2012)
Published in American Journal of Medical Genetics Part A (01.11.2012)
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Interstitial 11q deletion derived from a maternal ins(4;11)(p14;q24.2q25): A patient report and review
Van Zutven, Laura J.C.M., van Bever, Yolande, Van Nieuwland, Carolien C.M., Huijbregts, Gido C.M., Van Opstal, Diane, von Bergh, Anne R.M., Corel, Linda J.A., Tibboel, Dick, Wouters, Cokkie H., Poddighe, Pino J.
Published in American Journal of Medical Genetics Part A (01.07.2009)
Published in American Journal of Medical Genetics Part A (01.07.2009)
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Isolated postaxial polydactyly type B with mosaicism of a submicroscopic unbalanced translocation leading to an extended phenotype in offspring
Galjaard, Robert-Jan H., van der Linde, Herma C., Eussen, Bert H. J., de Vries, Bert B. A., Wouters, Cokkie H., Oostra, Ben A., Graaff, Esther de, Heutink, Peter
Published in American Journal of Medical Genetics Part A (30.08.2003)
Published in American Journal of Medical Genetics Part A (30.08.2003)
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Submicroscopic Xpter deletion in a boy with growth and mental retardation caused by a familial t(X;14)
de Vries, B B, Eussen, B H, van Diggelen, O P, van Der Heide, A, Deelen, W H, Govaerts, L C, Lindhout, D, Wouters, C H, Van Hemel, J O
Published in American journal of medical genetics (19.11.1999)
Published in American journal of medical genetics (19.11.1999)
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