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A rare MspI RFLP of the DMD probe p20 (DXS269).
Uhlhaas S, Bakker E, van Broeckhoven C, Barth-Schulz A, Friedl W. Uhlhaas S, et al. Among authors: van broeckhoven c. Hum Genet. 1992 Apr;89(1):122. doi: 10.1007/BF00207060. Hum Genet. 1992. PMID: 1374360 No abstract available.
DNA diagnosis for hereditary cerebral hemorrhage with amyloidosis (Dutch type).
Bakker E, van Broeckhoven C, Haan J, Voorhoeve E, van Hul W, Levy E, Lieberburg I, Carman MD, van Ommen GJ, Frangione B, et al. Bakker E, et al. Among authors: van ommen gj, van broeckhoven c, van hul w. Am J Hum Genet. 1991 Sep;49(3):518-21. Am J Hum Genet. 1991. PMID: 1679289 Free PMC article.
Estimation of the mutation frequencies in Charcot-Marie-Tooth disease type 1 and hereditary neuropathy with liability to pressure palsies: a European collaborative study.
Nelis E, Van Broeckhoven C, De Jonghe P, Löfgren A, Vandenberghe A, Latour P, Le Guern E, Brice A, Mostacciuolo ML, Schiavon F, Palau F, Bort S, Upadhyaya M, Rocchi M, Archidiacono N, Mandich P, Bellone E, Silander K, Savontaus ML, Navon R, Goldberg-Stern H, Estivill X, Volpini V, Friedl W, Gal A, et al. Nelis E, et al. Among authors: van broeckhoven c. Eur J Hum Genet. 1996;4(1):25-33. doi: 10.1159/000472166. Eur J Hum Genet. 1996. PMID: 8800924 Free article.
Germline mosaicism and Duchenne muscular dystrophy mutations.
Bakker E, Van Broeckhoven C, Bonten EJ, van de Vooren MJ, Veenema H, Van Hul W, Van Ommen GJ, Vandenberghe A, Pearson PL. Bakker E, et al. Among authors: van de vooren mj, van ommen gj, van broeckhoven c, van hul w. Nature. 1987 Oct 8-14;329(6139):554-6. doi: 10.1038/329554a0. Nature. 1987. PMID: 2889144
779 results