Alendronate for the Treatment of Pediatric Osteogenesis Imperfecta: A Randomized Placebo-Controlled Study von Ward, L. M, Rauch, F, Whyte, M. P, D'Astous, J, Gates, P. E, Grogan, D, Lester, E. L, McCall, R. E, Pressly, T. A, Sanders, J. O, Smith, P. A, Steiner, R. D, Sullivan, E, Tyerman, G, Smith-Wright, D. L, Verbruggen, N, Heyden, N, Lombardi, A, Glorieux, F. H

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Correlates of language impairment in children with galactosaemia von Potter, N. L., Lazarus, J.-A. C., Johnson, J. M., Steiner, R. D., Shriberg, L. D.

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Mutations in FKBP10, which result in Bruck syndrome and recessive forms of osteogenesis imperfecta, inhibit the hydroxylation of telopeptide lysines in bone collagen von Schwarze, Ulrike, Cundy, Tim, Pyott, Shawna M, Christiansen, Helena E, Hegde, Madhuri R, Bank, Ruud A, Pals, Gerard, Ankala, Arunkanth, Conneely, Karen, Seaver, Laurie, Yandow, Suzanne M, Raney, Ellen, Babovic-Vuksanovic, Dusica, Stoler, Joan, Ben-Neriah, Ziva, Segel, Reeval, Lieberman, Sari, Siderius, Liesbeth, Al-Aqeel, Aida, Hannibal, Mark, Hudgins, Louanne, McPherson, Elizabeth, Clemens, Michele, Sussman, Michael D, Steiner, Robert D, Mahan, John, Smith, Rosemarie, Anyane-Yeboa, Kwame, Wynn, Julia, Chong, Karen, Uster, Tami, Aftimos, Salim, Sutton, V Reid, Davis, Elaine C, Kim, Lammy S, Weis, Mary Ann, Eyre, David, Byers, Peter H

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Deletion of a single mevalonate kinase (Mvk) allele yields a murine model of hyper-IgD syndrome von Hager, E. J, Tse, H. M, Piganelli, J. D, Gupta, M, Baetscher, M, Tse, T. E, Pappu, A. S, Steiner, R. D, Hoffmann, G. F, Gibson, K. M

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The role of evidence-based medicine and clinical trials in rare genetic disorders von Kruer, MC, Steiner, RD

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Cesarean delivery is not associated with decreased at-birth fracture rates in osteogenesis imperfecta von Bellur, S., Jain, M., Cuthbertson, D., Krakow, D., Shapiro, J.R., Steiner, R.D., Smith, P.A., Bober, M.B., Hart, T., Krischer, J., Mullins, M., Byers, P.H., Pepin, M., Durigova, M., Glorieux, F.H., Rauch, F., Sutton, V.R., Lee, B., Nagamani, S.C.

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DHCR7 nonsense mutations and characterisation of mRNA nonsense mediated decay in Smith-Lemli-Opitz syndrome von Correa-Cerro, L S, Wassif, C A, Waye, J S, Krakowiak, P A, Cozma, D, Dobson, N R, Levin, S W, Anadiotis, G, Steiner, R D, Krajewska-Walasek, M, Nowaczyk, M J M, Porter, F D

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Standard area diagram set for anthracnose severity on grapevine bunches and shoots von Modesto, L. R., Steiner, D. R. M., Menon, J. K., Nodari, R. O., Welter, L. J., da Silva, A. L.

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A cross-sectional multicenter study of osteogenesis imperfecta in North America - results from the linked clinical research centers von Patel, R.M., Nagamani, S.C.S., Cuthbertson, D., Campeau, P.M., Krischer, J.P., Shapiro, J.R., Steiner, R.D., Smith, P.A., Bober, M.B., Byers, P.H., Pepin, M., Durigova, M., Glorieux, F.H., Rauch, F., Lee, B.H., Hart, T., Sutton, V.R.

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Remarkable improvement in adult Leigh syndrome with partial cytochrome c oxidase deficiency von GOLDENBERG, P. C, STEINER, R. D, MERKENS, L. S, DUNAWAY, T, EGAN, R. A, ZIMMERMAN, E. A, NESBIT, G, ROBINSON, B, KENNAWAY, N. G

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2-Methylbutyryl-coenzyme A dehydrogenase deficiency : A new inborn error of L-isoleucine metabolism von GIBSON, K. M, BURLINGAME, T. G, LINCK, L, POHOWALLA, P, SACKS, M, KISS, D, RINALDO, P, VOCKLEY, J, HOGEMA, B, JAKOBS, C, SCHUTGENS, R. B. H, MILLINGTON, D, ROE, C. R, ROE, D. S, SWEETMAN, L, STEINER, R. D

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Importance of surgical history in diagnosing mucopolysaccharidosis type II (Hunter syndrome): Data from the Hunter Outcome Survey von Mendelsohn, Nancy J., Harmatz, Paul, Bodamer, Olaf, Burton, Barbara K., Giugliani, Roberto, Jones, Simon A., Lampe, Christina, Malm, Gunilla, Steiner, Robert D., Parini, Rossella

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Studies of collagen synthesis and structure in the differentiation of child abuse from osteogenesis imperfecta von Steiner, Robert D., Pepin, Melanie, Byers, Peter H.

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Osteogenesis Imperfecta von Byers, P H, Steiner, R D

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Research challenges in central nervous system manifestations of inborn errors of metabolism von Dickson, P.I., Pariser, A.R., Groft, S.C., Ishihara, R.W., McNeil, D.E., Tagle, D., Griebel, D.J., Kaler, S.G., Mink, J.W., Shapiro, E.G., Bjoraker, K.J., Krivitzky, L., Provenzale, J.M., Gropman, A., Orchard, P., Raymond, G., Cohen, B.H., Steiner, R.D., Goldkind, S.F., Nelson, R.M., Kakkis, E., Patterson, M.C.

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Nonketotic hyperglycinemia: Atypical clinical and biochemical manifestations von Steiner, Robert D., Sweetser, David A., Rohrbaugh, James R., Dowton, S.Bruce, Toone, Jennifer R., Applegarth, Derek A.

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Biochemical, phenotypic and neurophysiological characterization of a genetic mouse model of RSH/Smith-Lemli-Opitz syndrome von WASSLF, Christopher A, PINJUN ZHU, STEWART, Randall R, PORTER, Forbes D, KRATZ, Lisa, KRAKOWIAK, Patrycja A, BATTAILE, Kevin P, WEIGHT, Forrest F, GRINBERG, Alexander, STEINER, Robert D, NWOKORO, Ngozi A, KELLEY, Richard I

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Osteogenesis imperfecta: Recent findings shed new light on this once well-understood condition von Basel, Donald, Steiner, Robert D

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Cholesterol supplementation with egg yolk increases plasma cholesterol and decreases plasma 7-dehydrocholesterol in Smith-Lemli-Opitz syndrome von Linck, L.M., Lin, D.S., Flavell, D., Connor, W.E., Steiner, R.D.

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Bisphosphonate therapy for osteogenesis imperfecta von Dwan, Kerry, Phillipi, Carrie A, Steiner, Robert D, Basel, Donald

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