Etiology of Lipid-laden Macrophages and in the Lung von ER, Stevenson, LC, Smith, ML, Wilkinson, SJ, Lee, AJ, Gow

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Phenotype and genotype in mucolipidoses II and III alpha/beta: a study of 61 probands von Cathey, S S, Leroy, J G, Wood, T, Eaves, K, Simensen, R J, Kudo, M, Stevenson, R E, Friez, M J

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Escape of the yolk sac: a hypothesis to explain the embryogenesis of gastroschisis von Stevenson, RE, Rogers, RC, Chandler, JC, Gauderer, MWL, Hunter, AGW

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Mutations in JARID1C are associated with X-linked mental retardation, short stature and hyperreflexia von Abidi, F E, Holloway, L, Moore, C A, Weaver, D D, Simensen, R J, Stevenson, R E, Rogers, R C, Schwartz, C E

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Alpha-thalassemia intellectual disability: variable phenotypic expression among males with a recurrent nonsense mutation - c.109C>T (p.R37X) von Basehore, M.J., Michaelson-Cohen, R., Levy-Lahad, E., Sismani, C., Bird, L.M., Friez, M.J., Walsh, T., Abidi, F., Holloway, L., Skinner, C., McGee, S., Alexandrou, A., Syrrou, M., Patsalis, P.C., Raymond, G., Wang, T., Schwartz, C.E., King, M.-C., Stevenson, R.E.

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Clinical experience in the evaluation of 30 patients with a prior diagnosis of FG syndrome von Lyons, M J, Graham, J M, Neri, G, Hunter, A G W, Clark, R D, Rogers, R C, Moscarda, M, Boccuto, L, Simensen, R, Dodd, J, Robertson, S, DuPont, B R, Friez, M J, Schwartz, C E, Stevenson, R E

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Physiological and foliar symptom response in the crowns of Prunus serotina, Fraxinus americana and Acer rubrum canopy trees to ambient ozone under forest conditions von Schaub, M., Skelly, J.M., Zhang, J.W., Ferdinand, J.A., Savage, J.E., Stevenson, R.E., Davis, D.D., Steiner, K.C.

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X linked severe mental retardation, craniofacial dysmorphology, epilepsy, ophthalmoplegia, and cerebellar atrophy in a large South African kindred is localised to Xq24-q27 von Christianson, Arnold L, Stevenson, Roger E, van der Meyden, C H, Pelser, Julie, Theron, Francois W, van Rensburg, Petro L, Chandler, Michael, Schwartz, Charles E

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The original Lujan syndrome family has a novel missense mutation (p.N1007S) in the MED12 gene von Schwartz, Charles E, Tarpey, Patrick S, Lubs, Herbert A, Verloes, Alain, May, Melanie M, Risheg, Hiba, Friez, Michael J, Futreal, P Andrew, Edkins, Sarah, Teague, Jon, Briault, Sylvain, Skinner, Cindy, Bauer-Carlin, Astrid, Simensen, Richard J, Joseph, Sumy M, Jones, Julie R, Gecz, Josef, Stratton, Michael R, Raymond, F Lucy, Stevenson, Roger E

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Allan-Herndon-Dudley Syndrome and the Monocarboxylate Transporter 8 ( MCT8) Gene von Schwartz, Charles E., May, Melanie M., Carpenter, Nancy J., Rogers, R. Curtis, Martin, Judith, Bialer, Martin G., Ward, Jewell, Sanabria, Javier, Marsa, Silvana, Lewis, James A., Echeverri, Roberto, Lubs, Herbert A., Voeller, Kytja, Simensen, Richard J., Stevenson, Roger E.

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Non-syndromic X-linked mental retardation associated with a missense mutation (P312L) in the FGD1 gene von Lebel, RR, May, M, Pouls, S, Lubs, HA, Stevenson, RE, Schwartz, CE

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Disruption of the IL1RAPL1 gene associated with a pericentromeric inversion of the X chromosome in a patient with mental retardation and autism von Bhat, SS, Ladd, S, Grass, F, Spence, JE, Brasington, CK, Simensen, RJ, Schwartz, CE, DuPont, BR, Stevenson, RE, Srivastava, AK

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Sibling recurrence in intellectual disability of unknown cause von Collins, JS, Marvelle, AF, Stevenson, RE

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Ozone uptake (flux) as it relates to ozone-induced foliar symptoms of Prunus serotina and Populus maximowizii x trichocarpa von Orendovici-Best, T, Skelly, J.M, Davis, D.D, Ferdinand, J.A, Savage, J.E, Stevenson, R.E

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A multi-variate statistical model integrating passive sampler and meteorology data to predict the frequency distributions of hourly ambient ozone (O 3) concentrations von Krupa, S., Nosal, M., Ferdinand, J.A., Stevenson, R.E., Skelly, J.M.

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Al‐Gazali Skeletal Dysplasia Constitutes the Lethal End of ADAMTSL2‐Related Disorders von Batkovskyte, Dominyka, McKenzie, Fiona, Taylan, Fulya, Simsek‐Kiper, Pelin Ozlem, Nikkel, Sarah M, Ohashi, Hirofumi, Stevenson, Roger E, Ha, Thuong, Cavalcanti, Denise P, Miyahara, Hiroyuki, Skinner, Steven A, Aguirre, Miguel A, Akçören, Zühal, Utine, Gulen Eda, Chiu, Tillie, Shimizu, Kenji, Hammarsjö, Anna, Boduroglu, Koray, Moore, Hannah W, Louie, Raymond J, Arts, Peer, Merrihew, Allie N, Babic, Milena, Jackson, Matilda R, Papadogiannakis, Nikos, Lindstrand, Anna, Nordgren, Ann, Barnett, Christopher P, Scott, Hamish S, Chagin, Andrei S, Nishimura, Gen, Grigelioniene, Giedre

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Physiological and foliar injury responses of Prunus serotina, Fraxinus americana, and Acer rubrum seedlings to varying soil moisture and ozone von Schaub, M, Skelly, J.M, Steiner, K.C, Davis, D.D, Pennypacker, S.P, Zhang, J, Ferdinand, J.A, Savage, J.E, Stevenson, R.E

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A novel 2 bp deletion in the TM4SF2 gene is associated with MRX58 von Abidi, F E, Holinski-Feder, E, Rittinger, O, Kooy, F, Lubs, H A, Stevenson, R E, Schwartz, C E

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Considering the Embryopathogenesis of VACTERL Association von Stevenson, R.E., Hunter, A.G.W.

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Autism and macrocephaly von Stevenson, Roger E, Schroer, Richard J, Skinner, Cindy, Fender, Don, Simensen, Richard J

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