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Results: 1-8 |
Results: 8

Authors: Kumada, S Hayashi, M Kenmochi, J Kurosawa, S Shimozawa, N Kratz, LE Kelley, RI Taki, K Okaniwa, M
Citation: S. Kumada et al., Lethal form of chondrodysplasia punctata with normal plasmalogen and cholesterol biosynthesis, AM J MED G, 98(3), 2001, pp. 250-255

Authors: Nowaczyk, MJM Heshka, T Kratz, LE Kelley, RE
Citation: Mjm. Nowaczyk et al., Difficult prenatal diagnosis in mild Smith-Lemli-Opitz syndrome, AM J MED G, 95(4), 2000, pp. 396-398

Authors: Grange, DK Kratz, LE Braverman, NE Kelley, RI
Citation: Dk. Grange et al., CHILD syndrome caused by deficiency of 3 beta-hydroxysteroid-Delta(8), Delta(7)-isomerase, AM J MED G, 90(4), 2000, pp. 328-335

Authors: Kelley, RI Wilcox, WG Smith, M Kratz, LE Moser, A Rimoin, DS
Citation: Ri. Kelley et al., Abnormal sterol metabolism in patients with Conradi-Hunermann-Happle syndrome and sporadic lethal chondrodysplasia punctata. (vol 83, pg 213, 1999), AM J MED G, 84(4), 1999, pp. 387-387

Authors: Kelley, RI Wilcox, WG Smith, M Kratz, LE Moser, A Rimoin, DS
Citation: Ri. Kelley et al., Rapid publication - Abnormal sterol metabolism in patients with Conradi-Hunermann-Happle syndrome and sporadic lethal chondrodysplasia punctata, AM J MED G, 83(3), 1999, pp. 213-219

Authors: Kratz, LE Kelley, RI
Citation: Le. Kratz et Ri. Kelley, Prenatal diagnosis of the RSH/Smith-Lemli-Opitz syndrome, AM J MED G, 82(5), 1999, pp. 376-381

Authors: Shackleton, CHL Roitman, E Kratz, LE Kelley, RI
Citation: Chl. Shackleton et al., Midgestational maternal urine steroid markers of fetal Smith-Lemli-Opitz (SLO) syndrome (7-dehydrocholesterol 7-reductase deficiency), STEROIDS, 64(7), 1999, pp. 446-452

Authors: Shackleton, CHL Roitman, E Kratz, LE Kelley, RI
Citation: Chl. Shackleton et al., Equine type estrogens produced by a pregnant woman carrying a Smith-Lemli-Opitz syndrome fetus, J CLIN END, 84(3), 1999, pp. 1157-1159
Risultati: 1-8 |