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:
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