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Results: 1-6 |
Results: 6

Authors: Takashima, H Boerkoel, CF Lupski, JR
Citation: H. Takashima et al., Screening for mutations in a genetically heterogeneous disorder: DHPLC versus DNA sequence for mutation detection in multiple genes causing Charcot-Marie-Tooth neuropathy, GENET MED, 3(5), 2001, pp. 335-342

Authors: Boerkoel, CF Takashima, H Stankiewicz, P Garcia, CA Leber, SM Rhee-Morris, L Lupski, JR
Citation: Cf. Boerkoel et al., Periaxin mutations cause recessive Dejerine-Sottas neuropathy, AM J HU GEN, 68(2), 2001, pp. 325-333

Authors: Boerkoel, CF O'Neill, S Andre, JL Benke, PJ Bogdanovic, R Bulla, M Burguet, A Cockfield, S Cordeiro, I Ehrich, JHH Frund, S Geary, DF Ieshima, A Illies, F Joseph, MW Kaitila, I Lama, G Leheup, B Ludman, MD McLeod, DR Medeira, A Milford, DV Ormala, T Rener-Primec, Z Santava, A Santos, HG Schmidt, B Smith, GC Spranger, J Zupancic, N Weksberg, R
Citation: Cf. Boerkoel et al., Manifestations and treatment of Schimke immuno-osseous dysplasia: 14 new cases and a review of the literature, EUR J PED, 159(1-2), 2000, pp. 1-7

Authors: Chang, H Bouman, D Boerkoel, CF Stewart, AK Squire, JA
Citation: H. Chang et al., Frequent monoallelic loss of D13S319 in multiple myeloma patients shown byinterphase fluorescence in situ hybridization, LEUKEMIA, 13(1), 1999, pp. 105-109

Authors: Collin, GB Marshall, JD Boerkoel, CF Levin, AV Weksberg, R Greenberg, J Michaud, JL Naggert, JK Nishina, PM
Citation: Gb. Collin et al., Alstrom syndrome: further evidence for linkage to human chromosome 2p13, HUM GENET, 105(5), 1999, pp. 474-479

Authors: Jankov, RP Boerkoel, CF Hellmann, J Sirkin, WL Tumer, Z Horn, N Feigenbaum, A
Citation: Rp. Jankov et al., Lethal neonatal Menkes' disease with severe vasculopathy and fractures, ACT PAEDIAT, 87(12), 1998, pp. 1297-1300
Risultati: 1-6 |