檢索結果 - Allanson, Judith E

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

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Elements of Morphology: Introduction 由 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 由 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 由 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? 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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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