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Results: 5

Authors: Hol, FA Schepens, MT van Beersum, SEC Redolfi, E Affer, M Vezzoni, P Hamel, BCJ Karnes, PS Mariman, ECM Zucchi, I
Citation: Fa. Hol et al., Identification and characterization of an Xq26-q27 duplication in a familywith spina bifida and panhypopituitarism suggests the involvement of two distinct genes, GENOMICS, 69(2), 2000, pp. 174-181

Authors: Couch, V Lindor, NM Karnes, PS Michels, VV
Citation: V. Couch et al., von Hippel-Lindau disease, MAYO CLIN P, 75(3), 2000, pp. 265-272

Authors: Kim, S Westphal, V Srikrishna, G Mehta, DP Peterson, S Filiano, J Karnes, PS Patterson, MC Freeze, HH
Citation: S. Kim et al., Dolichol phosphate mannose synthase (DPM1) mutations define congenital disorder of glycosylation Ie (CDG-Ie), J CLIN INV, 105(2), 2000, pp. 191-198

Authors: Nguyen, TT Kruckeberg, KE O'Brien, JF Ji, ZS Karnes, PS Crotty, TB Hay, ID Mahley, RW O'Brien, T
Citation: Tt. Nguyen et al., Familial splenomegaly: Macrophage hypercatabolism of lipoproteins associated with apolipoprotein E mutation [apolipoprotein E (Delta 149 Leu)], J CLIN END, 85(11), 2000, pp. 4354-4358

Authors: Babovic-Vuksanovic, D Constantinou, CL Rubin, J Rowland, CR Schaid, DJ Karnes, PS
Citation: D. Babovic-vuksanovic et al., Familial occurrence of carcinoid tumors and association with other malignant neoplasms, CANC EPID B, 8(8), 1999, pp. 715-719
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