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Results: 1-7 |
Results: 7
Enzyme-replacement therapy in mucopolysaccharidosis I.
Authors: Kakkis, ED Muenzer, J Tiller, GE Waber, L Belmont, J Passage, M Izykowski, B Phillips, J Doroshow, R Walot, I Hoft, R Yu, KT Okazaki, S Lewis, D Lachman, R Thompson, JN
Citation: Ed. Kakkis et al., Enzyme-replacement therapy in mucopolysaccharidosis I., N ENG J MED, 344(3), 2001, pp. 182-188
The molecular basis of X-linked spondyloepiphyseal dysplasia tarda
Authors: Gedeon, AK Tiller, GE Le Merrer, M Heuertz, S Tranebjaerg, L Chitayat, D Robertson, S Glass, IA Savarirayan, R Cole, WG Rimoin, DL Kousseff, BG Ohashi, H Zabel, B Munnich, A Gecz, J Mulley, JC
Citation: Ak. Gedeon et al., The molecular basis of X-linked spondyloepiphyseal dysplasia tarda, AM J HU GEN, 68(6), 2001, pp. 1386-1397
A recurrent RNA-splicing mutation in the SEDL gene causes X-linked spondyloepiphyseal dysplasia tarda
Authors: Tiller, GE Hannig, VL Dozier, D Carrel, L Trevarthen, KC Wilcox, WR Mundlos, S Haines, JL Gedeon, AK Gecz, J
Citation: Ge. Tiller et al., A recurrent RNA-splicing mutation in the SEDL gene causes X-linked spondyloepiphyseal dysplasia tarda, AM J HU GEN, 68(6), 2001, pp. 1398-1407
Situs inversus with hypertrophic cardiomyopathy in identical twins
Authors: Agirbasli, M Hamid, R Jennings, HS Tiller, GE
Citation: M. Agirbasli et al., Situs inversus with hypertrophic cardiomyopathy in identical twins, AM J MED G, 91(5), 2000, pp. 327-330
Identification of the gene (SEDL) causing X-linked spondyloepiphyseal dysplasia tarda
Authors: Gedeon, AK Colley, A Jamieson, R Thompson, EM Rogers, J Sillence, D Tiller, GE Mulley, JC Gecz, J
Citation: Ak. Gedeon et al., Identification of the gene (SEDL) causing X-linked spondyloepiphyseal dysplasia tarda, NAT GENET, 22(4), 1999, pp. 400-404
Multiple inositol polyphosphate phosphatase: Evolution as a distinct groupwithin the histidine phosphatase family and chromosomal localization of the human and mouse genes to chromosomes 10q23 and 19
Authors: Chi, HB Tiller, GE Dasouki, MJ Romano, PR Wang, J O'Keefe, RJ Puzas, JE Rosier, RN Reynolds, PR
Citation: Hb. Chi et al., Multiple inositol polyphosphate phosphatase: Evolution as a distinct groupwithin the histidine phosphatase family and chromosomal localization of the human and mouse genes to chromosomes 10q23 and 19, GENOMICS, 56(3), 1999, pp. 324-336
Cutis laxa arising from frameshift mutations in exon 30 of the elastin gene (ELN)
Authors: Zhang, MC He, L Giro, M Yong, SL Tiller, GE Davidson, JM
Citation: Mc. Zhang et al., Cutis laxa arising from frameshift mutations in exon 30 of the elastin gene (ELN), J BIOL CHEM, 274(2), 1999, pp. 981-986
Risultati: 1-7 |