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Results: 1-11 |
Results: 11
The immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is caused by mutations of FOXP3
Authors: Bennett, CL Christie, J Ramsdell, F Brunkow, ME Ferguson, PJ Whitesell, L Kelly, TE Saulsbury, FT Chance, PF Ochs, HD
Citation: Cl. Bennett et al., The immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is caused by mutations of FOXP3, NAT GENET, 27(1), 2001, pp. 20-21
Cervical spine anomalies and tumors in Weaver syndrome
Authors: Kelly, TE Alford, BK Abel, M
Citation: Te. Kelly et al., Cervical spine anomalies and tumors in Weaver syndrome, AM J MED G, 95(5), 2000, pp. 492-495
Reply to the letter to the editor by Miller - "Bone loading"
Authors: Kelly, TE
Citation: Te. Kelly, Reply to the letter to the editor by Miller - "Bone loading", AM J MED G, 91(5), 2000, pp. 397-397
Manifestations and linkage analysis in X-linked autoimmunity-immunodeficiency syndrome
Authors: Ferguson, PJ Blanton, SH Saulsbury, FT McDuffie, MJ Lemahieu, V Gastier, JM Francke, U Borowitz, SM Sutphen, JL Kelly, TE
Citation: Pj. Ferguson et al., Manifestations and linkage analysis in X-linked autoimmunity-immunodeficiency syndrome, AM J MED G, 90(5), 2000, pp. 390-397
Confirmation of the assignment of the Sanjad-Sakati (congenital hypoparathyroidism) syndrome (OMIM 241410) locus to chromosome 1q42-43
Authors: Kelly, TE Blanton, S Saif, R Sanjad, SA Sakati, NA
Citation: Te. Kelly et al., Confirmation of the assignment of the Sanjad-Sakati (congenital hypoparathyroidism) syndrome (OMIM 241410) locus to chromosome 1q42-43, J MED GENET, 37(1), 2000, pp. 63-64
Evaluation of chicken infectious anemia virus and. associated risk factorswith disease and production losses in broilers
Authors: Hagood, LT Kelly, TE Wright, JC Hoerr, FJ
Citation: Lt. Hagood et al., Evaluation of chicken infectious anemia virus and. associated risk factorswith disease and production losses in broilers, AVIAN DIS, 44(4), 2000, pp. 803-808
Extension of phenotype associated with structural mutations in type T collagen: Siblings with juvenile osteoporosis have an alpha 2(I)Gly436 -> Arg substitution
Authors: Dawson, PA Kelly, TE Marini, JC
Citation: Pa. Dawson et al., Extension of phenotype associated with structural mutations in type T collagen: Siblings with juvenile osteoporosis have an alpha 2(I)Gly436 -> Arg substitution, J BONE MIN, 14(3), 1999, pp. 449-455
Spinal muscular atrophy variant with congenital fractures
Authors: Kelly, TE Amoroso, K Ferre, M Blanco, J Allinson, P Prior, TW
Citation: Te. Kelly et al., Spinal muscular atrophy variant with congenital fractures, AM J MED G, 87(1), 1999, pp. 65-68
Expansion of a 27 CAG repeat allele into a symptomatic Huntington disease-producing allele
Authors: Kelly, TE Allinson, P McGlennen, RC Baker, J Bao, YD
Citation: Te. Kelly et al., Expansion of a 27 CAG repeat allele into a symptomatic Huntington disease-producing allele, AM J MED G, 87(1), 1999, pp. 91-92
Mosaicism in Prader-Willi syndrome: Detection using fluorescent in situ hybridization
Authors: Golden, WL Sudduth, KW Burnett, SH Kelly, TE
Citation: Wl. Golden et al., Mosaicism in Prader-Willi syndrome: Detection using fluorescent in situ hybridization, AM J MED G, 85(4), 1999, pp. 424-425
Chondrodysplasia punctata stemming from maternal lupus erythematosus
Authors: Kelly, TE Alford, BA Greer, KM
Citation: Te. Kelly et al., Chondrodysplasia punctata stemming from maternal lupus erythematosus, AM J MED G, 83(5), 1999, pp. 397-401
Risultati: 1-11 |