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Results: 1-7 |
Results: 7
Clinical-biochemical correlation in molecularly characterized patients with Niemann-Pick type C
Authors: Meiner, V Shpitzen, S Mandel, H Klar, A Ben-Neriah, Z Zlotogora, J Sagi, M Lossos, A Bargal, R Sury, V Carmi, R Leitersdorf, E Zeigler, M
Citation: V. Meiner et al., Clinical-biochemical correlation in molecularly characterized patients with Niemann-Pick type C, GENET MED, 3(5), 2001, pp. 343-348
Mucolipidosis type IV: Novel MCOLN1 mutations in Jewish and non-Jewish patients and the frequency of the disease in the Ashkenazi Jewish population
Authors: Bargal, R Avidan, N Olender, T Ben Asher, E Zeigler, M Raas-Rothschild, A Frumkin, A Ben-Yoseph, O Friedlender, Y Lancet, D Bach, G
Citation: R. Bargal et al., Mucolipidosis type IV: Novel MCOLN1 mutations in Jewish and non-Jewish patients and the frequency of the disease in the Ashkenazi Jewish population, HUM MUTAT, 17(5), 2001, pp. 397-402
Anti-CD11a ameliorates disease in the human psoriatic skin-SCID mouse transplant model: Comparison of antibody to CD11a with cyclosporin A and clobetasol propionate
Authors: Zeigler, M Chi, YQ Tumas, DB Bodary, S Tang, HC Varani, J
Citation: M. Zeigler et al., Anti-CD11a ameliorates disease in the human psoriatic skin-SCID mouse transplant model: Comparison of antibody to CD11a with cyclosporin A and clobetasol propionate, LAB INV, 81(9), 2001, pp. 1253-1261
Characterization of lysosomal acid lipase mutations in the signal peptide and mature polypeptide region causing Wolman disease
Authors: Zschenker, O Jung, N Rethmeier, J Trautwein, S Hertel, S Zeigler, M Ameis, D
Citation: O. Zschenker et al., Characterization of lysosomal acid lipase mutations in the signal peptide and mature polypeptide region causing Wolman disease, J LIPID RES, 42(7), 2001, pp. 1033-1040
Identification of the gene causing mucolipidosis type IV
Authors: Bargal, R Avidan, N Ben-Asher, E Olender, Z Zeigler, M Frumkin, A Raas-Rothschild, A Glusman, G Lancet, D Bach, G
Citation: R. Bargal et al., Identification of the gene causing mucolipidosis type IV, NAT GENET, 26(1), 2000, pp. 118-121
Molecular basis of variant pseudo-Hurler polydystrophy (mucolipidosis IIIC)
Authors: Raas-Rothschild, A Cormier-Daire, V Bao, M Genin, E Salomon, R Brewer, K Zeigler, M Mandel, H Toth, S Roe, B Munnich, A Canfield, WM
Citation: A. Raas-rothschild et al., Molecular basis of variant pseudo-Hurler polydystrophy (mucolipidosis IIIC), J CLIN INV, 105(5), 2000, pp. 673-681
Mucolipidosis type IV: the origin of the disease in the Ashkenazi Jewish population
Authors: Raas-Rothschild, A Bargal, R DellaPergola, S Zeigler, M Bach, G
Citation: A. Raas-rothschild et al., Mucolipidosis type IV: the origin of the disease in the Ashkenazi Jewish population, EUR J HUM G, 7(4), 1999, pp. 496-498
Risultati: 1-7 |