The phenotype of Floating-Harbor syndrome in 10 patients von White, Susan M., Morgan, Angela, Da Costa, Annette, Lacombe, Didier, Knight, Samantha J.L., Houlston, Richard, Whiteford, Margo L., Newbury-Ecob, Ruth A., Hurst, Jane A.

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SALL1 mutation analysis in Townes-Brocks syndrome: twelve novel mutations and expansion of the phenotype von Botzenhart, Elke M., Green, Andrew, Ilyina, Helena, König, Rainer, Lowry, R. Brian, Lo, Ivan F. M., Shohat, Mordechai, Burke, Leah, McGaughran, Julie, Chafai, Ronit, Pierquin, Geneviève, Michaelis, Ron C, Whiteford, Margo L., Simola, Kalle O. J., Rösler, Bernd, Kohlhase, Jürgen

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Genotype-phenotype analysis of the branchio-oculo-facial syndrome von Milunsky, Jeff M., Maher, Tom M., Zhao, Geping, Wang, Zhenyuan, Mulliken, John B., Chitayat, David, Clemens, Michele, Stalker, Heather J., Bauer, Mislen, Burch, Michele, Chénier, Sébastien, Cunningham, Michael L., Drack, Arlene V., Janssens, Sandra, Karlea, Audrey, Klatt, Regan, Kini, Usha, Klein, Ophir, Lachmeijer, Augusta M., Megarbane, Andre, Mendelsohn, Nancy J., Meschino, Wendy S., Mortier, Geert R., Parkash, Sandhya, Ray, C. Renai, Roberts, Angharad, Roberts, Amy, Reardon, Willie, Schnur, Rhonda E., Smith, Rosemarie, Splitt, Miranda, Tezcan, Kamer, Whiteford, Margo L., Wong, Derek A., Zori, Roberto, Lin, Angela E.

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Preimplantation genetic diagnosis von Wu, Pensée, Whiteford, Margo L, Cameron, Alan D

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Differential cytokine secretion results from p65 and c-Rel NF-κB subunit signaling in peripheral blood mononuclear cells of TNF receptor-associated periodic syndrome patients von Nedjai, Belinda, Hitman, Graham A., Church, Leigh D., Minden, Kirsten, Whiteford, Margo L., McKee, Shane, Stjernberg, Susanna, Pettersson, Tom, Ranki, Annamari, Hawkins, Philip N., Arkwright, Peter D., McDermott, Michael F., Turner, Mark D.

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Townes-Brocks syndrome: twenty novel SALL1 mutations in sporadic and familial cases and refinement of the SALL1 hot spot region von Botzenhart, Elke M., Bartalini, Gabriella, Blair, Edward, Brady, Angela F., Elmslie, Frances, Chong, Karen L., Christy, Katie, Torres-Martinez, Wilfredo, Danesino, Cesare, Deardorff, Matthew A., Fryns, Jean-Pierre, Marlin, Sandrine, Garcia-Minaur, Sixto, Hellenbroich, Yorck, Hay, Beverly N., Penttinen, Maila, Shashi, Vandana, Terhal, Paulien, Van Maldergem, Lionel, Whiteford, Margo L., Zackai, Elaine, Kohlhase, Jürgen

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The impact of spina bifida on individuals, families and society von Whiteford, Margo L.

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Townes-Brocks syndrome: twenty novelSALL1 mutations in sporadic and familial cases and refinement of theSALL1 hot spot region von Botzenhart, Elke M., Bartalini, Gabriella, Blair, Edward, Brady, Angela F., Elmslie, Frances, Chong, Karen L., Christy, Katie, Torres-Martinez, Wilfredo, Danesino, Cesare, Deardorff, Matthew A., Fryns, Jean-Pierre, Marlin, Sandrine, Garcia-Minaur, Sixto, Hellenbroich, Yorck, Hay, Beverly N., Penttinen, Maila, Shashi, Vandana, Terhal, Paulien, Van Maldergem, Lionel, Whiteford, Margo L., Zackai, Elaine, Kohlhase, Jürgen

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Mutations in SRCAP, Encoding SNF2-Related CREBBP Activator Protein, Cause Floating-Harbor Syndrome von Hood, Rebecca L., Lines, Matthew A., Nikkel, Sarah M., Schwartzentruber, Jeremy, Beaulieu, Chandree, Nowaczyk, Małgorzata J.M., Allanson, Judith, Kim, Chong Ae, Wieczorek, Dagmar, Moilanen, Jukka S., Lacombe, Didier, Gillessen-Kaesbach, Gabriele, Whiteford, Margo L., Quaio, Caio Robledo D.C., Gomy, Israel, Bertola, Debora R., Albrecht, Beate, Platzer, Konrad, McGillivray, George, Zou, Ruobing, McLeod, D. Ross, Chudley, Albert E., Chodirker, Bernard N., Marcadier, Janet, Majewski, Jacek, Bulman, Dennis E., White, Susan M., Boycott, Kym M.

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The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP von Nikkel, Sarah M, Dauber, Andrew, de Munnik, Sonja, Connolly, Meghan, Hood, Rebecca L, Caluseriu, Oana, Hurst, Jane, Kini, Usha, Nowaczyk, Malgorzata J M, Afenjar, Alexandra, Albrecht, Beate, Allanson, Judith E, Balestri, Paolo, Ben-Omran, Tawfeg, Brancati, Francesco, Cordeiro, Isabel, da Cunha, Bruna Santos, Delaney, Louisa A, Destrée, Anne, Fitzpatrick, David, Forzano, Francesca, Ghali, Neeti, Gillies, Greta, Harwood, Katerina, Hendriks, Yvonne M C, Héron, Delphine, Hoischen, Alexander, Honey, Engela Magdalena, Hoefsloot, Lies H, Ibrahim, Jennifer, Jacob, Claire M, Kant, Sarina G, Kim, Chong Ae, Kirk, Edwin P, Knoers, Nine V A M, Lacombe, Didier, Lee, Chung, Lo, Ivan F M, Lucas, Luiza S, Mari, Francesca, Mericq, Veronica, Moilanen, Jukka S, Møller, Sanne Traasdahl, Moortgat, Stephanie, Pilz, Daniela T, Pope, Kate, Price, Susan, Renieri, Alessandra, Sá, Joaquim, Schoots, Jeroen, Silveira, Elizabeth L, Simon, Marleen E H, Slavotinek, Anne, Temple, I Karen, van der Burgt, Ineke, de Vries, Bert B A, Weisfeld-Adams, James D, Whiteford, Margo L, Wierczorek, Dagmar, Wit, Jan M, Yee, Connie Fung On, Beaulieu, Chandree L, White, Sue M, Bulman, Dennis E, Bongers, Ernie, Brunner, Han, Feingold, Murray, Boycott, Kym M

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Mutation Analysis of Patients with Hermansky-Pudlak Syndrome: A Frameshift Hot Spot in the HPS Gene and Apparent Locus Heterogeneity von Oh, Jangsuk, Ho, Lingling, Ala-Mello, Sirpa, Amato, Dominick, Armstrong, Linda, Bellucci, Sylvia, Carakushansky, Gerson, Ellis, Julia P., Fong, Chin-To, Green, Jane S., Heon, Elise, Legius, Eric, Levin, Alex V., Nieuwenhuis, H. Karel, Pinckers, A., Tamura, Naoaki, Whiteford, Margo L., Yamasaki, Hisato, Spritz, Richard A.

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Differential cytokine secretion results from p65 and c-Rel NF-IoB subunit signaling in peripheral blood mononuclear cells of TNF receptor-associated periodic syndrome patients von Nedjai, Belinda, Hitman, Graham A, Church, Leigh D, Minden, Kirsten, Whiteford, Margo L, McKee, Shane, Stjernberg, Susanna, Pettersson, Tom, Ranki, Annamari, Hawkins, Philip N, Arkwright, Peter D, McDermott, Michael F, Turner, Mark D

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Mutational spectrum in the cardioauditory syndrome of Jervell and Lange-Nielsen von TYSON, Jessica, TRANEBJAERG, Lisbeth, PEMBREY, Marcus E, MALCOLM, Sue, BITNER-GLINDZICZ, Maria, MCENTAGART, Meriel, LARSEN, Lars A, CHRISTIANSEN, Michael, WHITEFORD, Margo L, BATHEN, Jørn, ASLAKSEN, Bjørn, SØRLAND, Svein Jan, LUND, Ole

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Outcome of Burkholderia (Pseudomonas) cepacia colonisation in children with cystic fibrosis following a hospital outbreak von Whiteford, M L, Wilkinson, J D, McColl, J H, Conlon, F M, Michie, J R, Evans, T J, Paton, J Y

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