Výsledky vyhledávání - Allanson, Judith E

Noonan syndrome Autor Roberts, Amy E, Allanson, Judith E, Tartaglia, Marco, Gelb, Bruce D

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Elements of Morphology: Introduction Autor Allanson, Judith E, Biesecker, Leslie G, Carey, John C, Hennekam, Raoul CM

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Elements of Morphology: Standard Terminology for the Head and Face Autor Allanson, Judith E., Cunniff, Christopher, Hoyme, H. Eugene, McGaughran, Julie, Muenke, Max, Neri, Giovanni

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Elements of Morphology: Standard Terminology for the External Genitalia Autor Hennekam, Raoul C.M., Allanson, Judith E., Biesecker, Leslie G., Carey, John C., Opitz, John M., Vilain, Eric

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Cardio-facio-cutaneous syndrome: Does genotype predict phenotype? Autor Allanson, Judith E, Annerén, Göran, Aoki, Yoki, Armour, Christine M, Bondeson, Marie-Louise, Cave, Helene, Gripp, Karen W, Kerr, Bronwyn, Nystrom, Anna-Maja, Sol-Church, Katia, Verloes, Alain, Zenker, Martin

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Supporting genetics in primary care: investigating how theory can inform professional education Autor Wilson, Brenda J, Islam, Rafat, Francis, Jill J, Grimshaw, Jeremy M, Permaul, Joanne A, Allanson, Judith E, Blaine, Sean, Graham, Ian D, Meschino, Wendy S, Ramsay, Craig R, Carroll, June C

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The Face of Noonan Syndrome: Does Phenotype Predict Genotype Autor Allanson, Judith E., Bohring, Axel, Dorr, Helmuth-Guenther, Dufke, Andreas, Gillessen-Kaesbach, Gabrielle, Horn, Denise, König, Rainer, Kratz, Christian P., Kutsche, Kerstin, Pauli, Silke, Raskin, Salmo, Rauch, Anita, Turner, Anne, Wieczorek, Dagmar, Zenker, Martin

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SLC20A2 and THAP1 deletion in familial basal ganglia calcification with dystonia Autor Baker, Matt, Strongosky, Audrey J., Sanchez-Contreras, Monica Y., Yang, Shan, Ferguson, Will, Calne, Donald B., Calne, Susan, Stoessl, A. Jon, Allanson, Judith E., Broderick, Daniel F., Hutton, Michael L., Dickson, Dennis W., Ross, Owen A., Wszolek, Zbigniew K., Rademakers, Rosa

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Discriminating Power of Localized Three-Dimensional Facial Morphology Autor Hammond, Peter, Hutton, Tim J., Allanson, Judith E., Buxton, Bernard, Campbell, Linda E., Clayton-Smith, Jill, Donnai, Dian, Karmiloff-Smith, Annette, Metcalfe, Kay, Murphy, Kieran C., Patton, Michael, Pober, Barbara, Prescott, Katrina, Scambler, Pete, Shaw, Adam, Smith, Ann C. M., Stevens, Angela F., Temple, I. Karen, Hennekam, Raoul, Tassabehji, May

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Delineation of candidate genes responsible for structural brain abnormalities in patients with terminal deletions of chromosome 6q27 Autor Peddibhotla, Sirisha, Nagamani, Sandesh CS, Erez, Ayelet, Hunter, Jill V, Holder Jr, J Lloyd, Carlin, Mary E, Bader, Patricia I, Perras, Helene MF, Allanson, Judith E, Newman, Leslie, Simpson, Gayle, Immken, LaDonna, Powell, Erin, Mohanty, Aaron, Kang, Sung-Hae L, Stankiewicz, Pawel, Bacino, Carlos A, Bi, Weimin, Patel, Ankita, Cheung, Sau W

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Mutations in SPECC1L, encoding sperm antigen with calponin homology and coiled-coil domains 1-like, are found in some cases of autosomal dominant Opitz G/BBB syndrome Autor Kruszka, Paul, Li, Dong, Harr, Margaret H, Wilson, Nathan R, Swarr, Daniel, McCormick, Elizabeth M, Chiavacci, Rosetta M, Li, Mindy, Martinez, Ariel F, Hart, Rachel A, McDonald-McGinn, Donna M, Deardorff, Matthew A, Falk, Marni J, Allanson, Judith E, Hudson, Cindy, Johnson, John P, Saadi, Irfan, Hakonarson, Hakon, Muenke, Maximilian, Zackai, Elaine H

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Proceedings from the 2009 Genetic Syndromes of the Ras/MAPK Pathway: From Bedside to Bench and Back Autor Rauen, Katherine A., Schoyer, Lisa, McCormick, Frank, Lin, Angela E., Allanson, Judith E., Stevenson, David A., Gripp, Karen W., Neri, Giovanni, Carey, John C., Legius, Eric, Tartaglia, Marco, Schubbert, Suzanne, Roberts, Amy E., Gelb, Bruce D., Shannon, Kevin, Gutmann, David H., McMahon, Martin, Guerra, Carmen, Fagin, James A., Yu, Benjamin, Aoki, Yoko, Neel, Ben G., Balmain, Allan, Drake, Richard R., Nolan, Garry P., Zenker, Martin, Bollag, Gideon, Sebolt-Leopold, Judith, Gibbs, Jackson B., Silva, Alcino J., Patton, E. Elizabeth, Viskochil, David H., Kieran, Mark W., Korf, Bruce R., Hagerman, Randi J., Packer, Roger J., Melese, Teri

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The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP Autor 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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