PCR-based DNA test to confirm clinical diagnosis of autosomal recessive spinal muscular atrophy
van der Steege, G., Grootscholten, P.M., van der Vlies, P., Draaijers, T.G., Osinga, J., Cobben, J.M., Scheffer, H., Buys, C.H.C.M.
Published in The Lancet (British edition) (15.04.1995)
Published in The Lancet (British edition) (15.04.1995)
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Prenatal Prediction of Spinal Muscular Atrophy
Chobben, J.M., Scheffer, H., De Visser, M., Van der Steege, G., Verhey, J.B.B.M., Osinga, J., Burton, M., Mensink, R.G.J., Grootscholten, P.M., Ten Kate, L.P., Buys, C.H.C.M.
Published in European journal of human genetics : EJHG (1996)
Published in European journal of human genetics : EJHG (1996)
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Journal Article
High resoluation deletion breakpoint mapping in the DMD gene by whole cosmid hybridization
Blonden, L.a.J, Dunnen, J.T. den, Paassen, H.M.B. van, Wapenaar, M.C., Grootscholten, P.M., Ginjaar, H.B., Bakker, E., Pearson, P.L., Ommen, G.J.B.
Published in Nucleic acids research (25.07.1989)
Published in Nucleic acids research (25.07.1989)
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Journal Article
A deletion hot spot in the Duchenne muscular dystrophy gene
Wapenaar, M.C., Kievits, T., Hart, K.A., Abbs, S., Blonden, L.A.J., den Dunnen, J.T., Grootscholten, P.M., Bakker, E., Verellen-Dumoulin, Ch, Bobrow, M., van Ommen, G.J.B., Pearson, P.L.
Published in Genomics (San Diego, Calif.) (01.02.1988)
Published in Genomics (San Diego, Calif.) (01.02.1988)
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Journal Article
242 Breakpoints in the 200-kb deletion-prone P20 region of the DMD gene are widely spread
Blonden, L.A.J., Grootscholten, P.M., den Dunnen, J.T., Bakker, E., Abbs, S., Bobrow, M., Boehm, C., van Broeckhoven, C., Baumbach, L., Chamberlain, J., Caskey, C.T., Denton, M., Felicetti, L., Galluzi, G., Fischbeck, K.H., Francke, U., Darras, B., Gilgenkrantz, H., Kaplan, J.-C., Herrmann, F.H., Junien, C., Boileau, C., Liechti-Gallati, S., Lindlöf, M., Matsumoto, T., Niikawa, N., Müller, C.R., Poncin, J., Malcolm, S., Robertson, E., Romeo, G., Covone, A.E., Scheffer, H., Schröder, E., Schwartz, M., Verellen, C., Walker, A., Worton, R., Gillard, E., van Ommen, G.J.B.
Published in Genomics (San Diego, Calif.) (1991)
Published in Genomics (San Diego, Calif.) (1991)
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