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Results: 1-17 |
Results: 17
Clinical genetics: Compassion, access, science, and advocacy
Authors: McCabe, ERB
Citation: Erb. Mccabe, Clinical genetics: Compassion, access, science, and advocacy, GENET MED, 3(6), 2001, pp. 426-429
Consequences of complexity within biological networks: Robustness and health, or vulnerability and disease
Authors: Dipple, KM Phelan, JK McCabe, ERB
Citation: Km. Dipple et al., Consequences of complexity within biological networks: Robustness and health, or vulnerability and disease, MOL GEN MET, 74(1-2), 2001, pp. 45-50
Mutations in NROB1 (DAX1) and NR5A1 (SF1) responsible for adrenal hypoplasia congenita
Authors: Phelan, JK McCabe, ERB
Citation: Jk. Phelan et Erb. Mccabe, Mutations in NROB1 (DAX1) and NR5A1 (SF1) responsible for adrenal hypoplasia congenita, HUM MUTAT, 18(6), 2001, pp. 472-487
Glycerol kinase deficiency: Evidence for complexity in a single gene disorder
Authors: Dipple, KM Zhang, YH Huang, BL McCabe, LL Dallongeville, J Inokuchi, T Kimura, M Marx, HJ Roederer, GO Shih, V Yamaguchi, S Yoshida, I McCabe, ERB
Citation: Km. Dipple et al., Glycerol kinase deficiency: Evidence for complexity in a single gene disorder, HUM GENET, 109(1), 2001, pp. 55-62
Postgenomic medicine - Presymptomatic testing for prediction and prevention
Authors: McCabe, LL McCabe, ERB
Citation: Ll. Mccabe et Erb. Mccabe, Postgenomic medicine - Presymptomatic testing for prediction and prevention, CLIN PERIN, 28(2), 2001, pp. 425
Primate DAX1, SRY and SOX9: Evolutionary stratification of sex-determination pathway
Authors: Patel, M Dorman, KS Zhang, YH Huang, BL Arnold, AP Sinsheimer, JS Vilain, E McCabe, ERB
Citation: M. Patel et al., Primate DAX1, SRY and SOX9: Evolutionary stratification of sex-determination pathway, AM J HU GEN, 68(1), 2001, pp. 275-280
Midkine is expressed early in rat fetal adrenal development
Authors: Dewing, P Ching, ST Zhang, YH Huang, BL Peirce, RM McCabe, ERB Vilain, E
Citation: P. Dewing et al., Midkine is expressed early in rat fetal adrenal development, MOL GEN MET, 71(4), 2000, pp. 616-622
Modifier genes convert "simple" Mendelian disorders to complex traits
Authors: Dipple, KM McCabe, ERB
Citation: Km. Dipple et Erb. Mccabe, Modifier genes convert "simple" Mendelian disorders to complex traits, MOL GEN MET, 71(1-2), 2000, pp. 43-50
Fructose-1,6-diphosphatase deficiency and glyceroluria: One possible etiology for GIS
Authors: Beatty, ME Zhang, YH McCabe, ERB Steiner, RD
Citation: Me. Beatty et al., Fructose-1,6-diphosphatase deficiency and glyceroluria: One possible etiology for GIS, MOL GEN MET, 69(4), 2000, pp. 338-340
AluY insertion (IVS4-52ins316alu) in the glycerol kinase gene from an individual with benign glycerol kinase deficiency
Authors: Zhang, YH Dipple, KM Vilain, E Huang, BL Finlayson, G Therrell, BL Worley, K Deininger, P McCabe, ERB
Citation: Yh. Zhang et al., AluY insertion (IVS4-52ins316alu) in the glycerol kinase gene from an individual with benign glycerol kinase deficiency, HUM MUTAT, 15(4), 2000, pp. 316-323
Cloning and characterization of a putative human glycerol 3-phosphate permease gene (SLC37A1 ou G3PP) on 21q22.3: Mutation analysis in two candidate phenotypes, DFNB10 and a glycerol kinase deficiency
Authors: Bartoloni, T Wattenhofer, M Kudoh, J Berry, A Shibuya, K Kawasaki, K Wang, J Asakawa, S Talior, I Bonne-Tamir, B Rossier, C Michaud, J McCabe, ERB Minoshima, S Shimizu, N Scott, HS Antonarakis, SE
Citation: T. Bartoloni et al., Cloning and characterization of a putative human glycerol 3-phosphate permease gene (SLC37A1 ou G3PP) on 21q22.3: Mutation analysis in two candidate phenotypes, DFNB10 and a glycerol kinase deficiency, GENOMICS, 70(2), 2000, pp. 190-200
Final report of the FOPE II Pediatric Subspecialists of the Future Workgroup
Authors: Gruskin, A Williams, RG McCabe, ERB Stein, F Strickler, J Mulvey, HJ Alden, ER Simon, JL Chesney, RW
Citation: A. Gruskin et al., Final report of the FOPE II Pediatric Subspecialists of the Future Workgroup, PEDIATRICS, 106(5), 2000, pp. 1224-1244
Phenotypes of patients with "simple" mendelian disorders are complex traits: Thresholds, modifiers, and systems dynamics
Authors: Dipple, KM McCabe, ERB
Citation: Km. Dipple et Erb. Mccabe, Phenotypes of patients with "simple" mendelian disorders are complex traits: Thresholds, modifiers, and systems dynamics, AM J HU GEN, 66(6), 2000, pp. 1729-1735
Expression of hexokinase 1 and hexokinase 2 in mammary tissue of nonlactating and lactating rats: Evaluation by RT-PCR
Authors: Kaselonis, GL McCabe, ERB Gray, SM
Citation: Gl. Kaselonis et al., Expression of hexokinase 1 and hexokinase 2 in mammary tissue of nonlactating and lactating rats: Evaluation by RT-PCR, MOL GEN MET, 68(3), 1999, pp. 371-374
Bacterial species identification after DNA amplification with a universal primer pair
Authors: McCabe, KM Zhang, YH Huang, BL Wagar, EA McCabe, ERB
Citation: Km. Mccabe et al., Bacterial species identification after DNA amplification with a universal primer pair, MOL GEN MET, 66(3), 1999, pp. 205-211
State-of-the-art for DNA technology in newborn screening
Authors: McCabe, ERB McCabe, LL
Citation: Erb. Mccabe et Ll. Mccabe, State-of-the-art for DNA technology in newborn screening, ACT PAEDIAT, 88, 1999, pp. 58-60
Commentary - IMAGe, a new clinical association of Intrauterine growth retardation, Mataphyseal dysplasia, Adrenal hypoplasia congenita, Genital anomalies
Authors: Vilain, E Le Merrer, M Lecointre, C Desangles, F Kay, MA Maroteaux, P McCabe, ERB
Citation: E. Vilain et al., Commentary - IMAGe, a new clinical association of Intrauterine growth retardation, Mataphyseal dysplasia, Adrenal hypoplasia congenita, Genital anomalies, J CLIN END, 84(12), 1999, pp. 4335-4340
Risultati: 1-17 |