Ohcanbohtosat - Angle, Brad

Fibulin-4: A Novel Gene for an Autosomal Recessive Cutis Laxa Syndrome Dahkki Hucthagowder, Vishwanathan, Sausgruber, Nina, Kim, Katherine H., Angle, Brad, Marmorstein, Lihua Y., Urban, Zsolt

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Whole exome sequence analysis of Peters anomaly Dahkki Weh, Eric, Reis, Linda M., Happ, Hannah C., Levin, Alex V., Wheeler, Patricia G., David, Karen L., Carney, Erin, Angle, Brad, Hauser, Natalie, Semina, Elena V.

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Distinctive Phenotype in 9 Patients with Deletion of Chromosome 1q24-q25 Dahkki Burkardt, Deepika D’Cunha, Rosenfeld, Jill A., Helgeson, Maria, Angle, Brad, Banks, Valerie, Smith, Wendy, Gripp, Karen W., Moline, Jessica, Moran, Rocio, Niyazov, Dmitriy M., Stevens, Cathy, Zackai, Elaine, Lebel, Robert Roger, Ashley, Douglas, Kramer, Nancy, Lachman, Ralph S., Graham, John M.

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Evaluation and classification of severity for 176 genes on an expanded carrier screening panel Dahkki Arjunan, Aishwarya, Bellerose, Holly, Torres, Raul, Ben‐Shachar, Rotem, Hoffman, Jodi D., Angle, Brad, Slotnick, Robert Nathan, Simpson, Brittany N., Lewis, Andrea M., Magoulas, Pilar L., Bontempo, Kelly, Schulze, Jeanine, Tarpinian, Jennifer, Bucher, Jessica A., Dineen, Richard, Goetsch, Allison, Lazarin, Gabriel A., Johansen Taber, Katherine

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Mutations in PPIB (cyclophilin B) delay type I procollagen chain association and result in perinatal lethal to moderate osteogenesis imperfecta phenotypes Dahkki Pyott, Shawna M., Schwarze, Ulrike, Christiansen, Helena E., Pepin, Melanie G., Leistritz, Dru F., Dineen, Richard, Harris, Catharine, Burton, Barbara K., Angle, Brad, Kim, Katherine, Sussman, Michael D., Weis, MaryAnn, Eyre, David R., Russell, David W., McCarthy, Kevin J., Steiner, Robert D., Byers, Peter H.

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Mouse model implicates GNB3 duplication in a childhood obesity syndrome Dahkki Goldlust, Ian S., Hermetz, Karen E., Catalano, Lisa M., Barfield, Richard T., Cozad, Rebecca, Wynn, Grace, Ozdemir, Alev Cagla, Conneely, Karen N., Mulle, Jennifer G., Dharamrup, Shikha, Hegde, Madhuri R., Kim, Katherine H., Angle, Brad, Colley, Alison, Webb, Amy E., Thorland, Erik C., Ellison, Jay W., Rosenfeld, Jill A., Ballif, Blake C., Shaffer, Lisa G., Demmer, Laurie A., Rudd, M. Katharine, Searle, Beverly A, Wynn, Sarah L.

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WRN Mutation Update: Mutation Spectrum, Patient Registries, and Translational Prospects Dahkki Yokote, Koutaro, Chanprasert, Sirisak, Lee, Lin, Eirich, Katharina, Takemoto, Minoru, Watanabe, Aki, Koizumi, Naoko, Lessel, Davor, Mori, Takayasu, Hisama, Fuki M., Ladd, Paula D., Angle, Brad, Baris, Hagit, Cefle, Kivanc, Palanduz, Sukru, Ozturk, Sukru, Chateau, Antoinette, Deguchi, Kentaro, Easwar, T.K.M, Federico, Antonio, Fox, Amy, Grebe, Theresa A., Hay, Beverly, Nampoothiri, Sheela, Seiter, Karen, Streeten, Elizabeth, Piña-Aguilar, Raul E., Poke, Gemma, Poot, Martin, Posmyk, Renata, Martin, George M., Kubisch, Christian, Schindler, Detlev, Oshima, Junko

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Phenotypic Heterogeneity of Genomic Disorders and Rare Copy-Number Variants Dahkki Girirajan, Santhosh, Rosenfeld, Jill A., Coe, Bradley P., Parikh, Sumit, Friedman, Neil, Goldstein, Amy, Filipink, Robyn A., McConnell, Juliann S., Angle, Brad, Meschino, Wendy S., Nezarati, Marjan M., Asamoah, Alexander, Jackson, Kelly E., Gowans, Gordon C., Martin, Judith A., Carmany, Erin P., Stockton, David W., Schnur, Rhonda E., Penney, Lynette S., Martin, Donna M., Raskin, Salmo, Leppig, Kathleen, Thiese, Heidi, Smith, Rosemarie, Aberg, Erika, Niyazov, Dmitriy M., Escobar, Luis F., El-Khechen, Dima, Johnson, Kisha D., Lebel, Robert R., Siefkas, Kiana, Ball, Susie, Shur, Natasha, McGuire, Marianne, Brasington, Campbell K., Spence, J. Edward, Martin, Laura S., Clericuzio, Carol, Ballif, Blake C., Shaffer, Lisa G., Eichler, Evan E.

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Urinary Tract Effects of HPSE2 Mutations Dahkki Stuart, Helen M., Roberts, Neil A., Hilton, Emma N., McKenzie, Edward A., Daly, Sarah B., Hadfield, Kristen D., Rahal, Jeffery S., Gardiner, Natalie J., Tanley, Simon W., Lewis, Malcolm A., Sites, Emily, Angle, Brad, Alves, Cláudia, Lourenço, Teresa, Rodrigues, Márcia, Calado, Angelina, Amado, Marta, Guerreiro, Nancy, Serras, Inês, Beetz, Christian, Varga, Rita-Eva, Silay, Mesrur Selcuk, Darlow, John M., Dobson, Mark G., Barton, David E., Hunziker, Manuela, Puri, Prem, Feather, Sally A., Goodship, Judith A., Goodship, Timothy H.J., Lambert, Heather J., Cordell, Heather J., Saggar, Anand, Kinali, Maria, Lorenz, Christian, Moeller, Kristina, Schaefer, Franz, Bayazit, Aysun K., Weber, Stefanie, Newman, William G., Woolf, Adrian S.

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Further delineation of the KAT6B molecular and phenotypic spectrum Dahkki Gannon, Tamsin, Perveen, Rahat, Schlecht, Hélene, Ramsden, Simon, Anderson, Beverley, Kerr, Bronwyn, Day, Ruth, Banka, Siddharth, Suri, Mohnish, Berland, Siren, Gabbett, Michael, Ma, Alan, Lyonnet, Stan, Cormier-Daire, Valerie, Yilmaz, Rüstem, Borck, Guntram, Wieczorek, Dagmar, Anderlid, Britt-Marie, Smithson, Sarah, Vogt, Julie, Moore-Barton, Heather, Simsek-Kiper, Pelin Ozlem, Maystadt, Isabelle, Destrée, Anne, Bucher, Jessica, Angle, Brad, Mohammed, Shehla, Wakeling, Emma, Price, Sue, Singer, Amihood, Sznajer, Yves, Toutain, Annick, Haye, Damien, Newbury-Ecob, Ruth, Fradin, Melanie, McGaughran, Julie, Tuysuz, Beyhan, Tein, Mark, Bouman, Katelijne, Dabir, Tabib, Van den Ende, Jenneke, Luk, Ho Ming, Pilz, Daniela T, Eason, Jacqueline, Davies, Sally, Reardon, Willie, Garavelli, Livia, Zuffardi, Orsetta, Devriendt, Koen, Armstrong, Ruth, Johnson, Diana, Doco-Fenzy, Martine, Bijlsma, Emilia, Unger, Sheila, Veenstra-Knol, Hermine E, Kohlhase, Jürgen, Lo, Ivan FM, Smith, Janine, Clayton-Smith, Jill

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