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Results: 1-9 |
Results: 9
Characterization of the human beta 4 nAChR gene and polymorphisms in CHRNA3 and CHRNB4
Authors: Lev-Lehman, E Bercovich, D Xu, W Stockton, DW Beaudet, AL
Citation: E. Lev-lehman et al., Characterization of the human beta 4 nAChR gene and polymorphisms in CHRNA3 and CHRNB4, J HUM GENET, 46(7), 2001, pp. 362-366
Hereditary neuropathy with liability to pressure palsies is not a major cause of idiopathic carpal tunnel syndrome
Authors: Stockton, DW Meade, RA Netscher, DT Epstein, MJ Shenaq, SM Shaffer, LG Lupski, JR
Citation: Dw. Stockton et al., Hereditary neuropathy with liability to pressure palsies is not a major cause of idiopathic carpal tunnel syndrome, ARCH NEUROL, 58(10), 2001, pp. 1635-1637
Mutation of PAX9 is associated with oligodontia
Authors: Stockton, DW Das, P Goldenberg, M D'Souza, RN Patel, PI
Citation: Dw. Stockton et al., Mutation of PAX9 is associated with oligodontia, NAT GENET, 24(1), 2000, pp. 18-19
Multiple CYP1B1 mutations and incomplete penetrance in an inbred population segregating primary congenital glaucoma suggest frequent de novo events and a dominant modifier locus (vol 9, pg 367, 2000)
Authors: Bejjani, BA Stockton, DW Lewis, RA Tomey, KF Dueker, DK Jabak, M Astle, WF Lupski, JR
Citation: Ba. Bejjani et al., Multiple CYP1B1 mutations and incomplete penetrance in an inbred population segregating primary congenital glaucoma suggest frequent de novo events and a dominant modifier locus (vol 9, pg 367, 2000), HUM MOL GEN, 9(7), 2000, pp. 1141-1141
Multiple CYP1B1 mutations and incomplete penetrance in an inbred population segregating primary congenital glaucoma suggest frequent de novo events and a dominant modifier locus
Authors: Bejjani, BA Stockton, DW Lewis, RA Tomey, KF Dueker, DK Jabak, M Astle, WF Lupski, JR
Citation: Ba. Bejjani et al., Multiple CYP1B1 mutations and incomplete penetrance in an inbred population segregating primary congenital glaucoma suggest frequent de novo events and a dominant modifier locus, HUM MOL GEN, 9(3), 2000, pp. 367-374
Terminal osseous dysplasia and pigmentary defects: Clinical characterization of a novel male lethal X-linked syndrome
Authors: Bacino, CA Stockton, DW Sierra, RA Heilstedt, HA Lewandowski, R Van den Veyver, IB
Citation: Ca. Bacino et al., Terminal osseous dysplasia and pigmentary defects: Clinical characterization of a novel male lethal X-linked syndrome, AM J MED G, 94(2), 2000, pp. 102-112
Clinical, radiographic, and genetic evaluation of a novel form of autosomal-dominant oligodontia
Authors: Goldenberg, M Das, P Messersmith, M Stockton, DW Patel, PI D'Souza, RN
Citation: M. Goldenberg et al., Clinical, radiographic, and genetic evaluation of a novel form of autosomal-dominant oligodontia, J DENT RES, 79(7), 2000, pp. 1469-1475
Terminal osseous dysplasia with pigmentary defects maps to human chromosome Xq27.3-Xqter
Authors: Zhang, WZ Amir, R Stockton, DW Van den Veyver, IB Bacino, CA Zoghbi, HY
Citation: Wz. Zhang et al., Terminal osseous dysplasia with pigmentary defects maps to human chromosome Xq27.3-Xqter, AM J HU GEN, 66(4), 2000, pp. 1461-1464
Delineation of the critical interval of Bardet-Biedl Syndrome 1 (BBS1) to a small region of 11q13, through linkage and haplotype analysis of 91 pedigrees
Authors: Katsanis, N Lewis, RA Stockton, DW Mai, PMT Baird, L Beales, PL Leppert, M Lupski, JR
Citation: N. Katsanis et al., Delineation of the critical interval of Bardet-Biedl Syndrome 1 (BBS1) to a small region of 11q13, through linkage and haplotype analysis of 91 pedigrees, AM J HU GEN, 65(6), 1999, pp. 1672-1679
Risultati: 1-9 |