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Mutations in PYCR1 cause cutis laxa with progeroid features (vol 41, pg 1016, 2009) Reversade, Bruno; Escande-Beillard, Nathalie; Dimopoulou, Aikaterini; Fischer, Bjorn; Chng, Serene C.; Li, Yun; Shboul, Mohammad; Tham, Puay-Yoke; Kayserili, Hulya; Al-Gazali, Lihadh; Shahwan, Monzer; Brancati, Francesco; Lee, Hane; O'Connor, Brian D.; Kegler, Mareen Schmidt-von; Merriman, Barry; Nelson, Stanley F.; Masri, Amira; Alkazaleh, Fawaz; Guerra, Deanna; Ferrari, Paola; Nanda, Arti; Rajab, Anna; Markie, David; Gray, Mary; Nelson, John; Grix, Arthur; Sommer, Annemarie; Savarirayan, Ravi; Janecke, Andreas R.; Steichen, Elisabeth; Sillence, David; Hausser, Ingrid; Budde, Birgit; Nurnberg, Gudrun; Nurnberg, Peter; Seemann, Petra; Kunkel, Desiree; Zambruno, Giovanna; Dallapiccola, Bruno; Schuelke, Markus; Robertson, Stephen; Hamamy, Hanan; Wollnik, Bernd; Van Maldergem, Lionel; Mundlos, Stefan; Kornak, Uwe 分享 收藏
Revealing hidden genetic diagnoses in the ocular anterior segment disorders Ma, Alan; Yousoof, Saira; Grigg, John R.; Flaherty, Maree; Minoche, Andre E.; Cowley, Mark J.; Nash, Benjamin M.; Ho, Gladys; Gayagay, Thet; Lai, Tiffany; Farnsworth, Elizabeth; Hackett, Emma L.; Fisk, Katrina; Wong, Karen; Holman, Katherine J.; Jenkins, Gemma; Cheng, Anson; Martin, Frank; Karaconji, Tanya; Elder, James E.; Enriquez, Annabelle; Wilson, Meredith; Amor, David J.; Stutterd, Chloe A.; Kamien, Benjamin; Nelson, John; Dinger, Marcel E.; Bennetts, Bruce; Jamieson, Robyn, V 分享 收藏
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X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes Hu, H.; Haas, S. A.; Chelly, J.; Van Esch, H.; Raynaud, M.; de Brouwer, A. P. M.; Weinert, S.; Froyen, G.; Frints, S. G. M.; Laumonnier, F.; Zemojtel, T.; Love, M. I.; Richard, H.; Emde, A-K; Bienek, M.; Jensen, C.; Hambrock, M.; Fischer, U.; Langnick, C.; Feldkamp, M.; Wissink-Lindhout, W.; Lebrun, N.; Castelnau, L.; Rucci, J.; Montjean, R.; Dorseuil, O.; Billuart, P.; Stuhlmann, T.; Shaw, M.; Corbett, M. A.; Gardner, A.; Willis-Owen, S.; Tan, C.; Friend, K. L.; Belet, S.; van Roozendaal, K. E. P.; Jimenez-Pocquet, M.; Moizard, M-P; Ronce, N.; Sun, R.; O'Keeffe, S.; Chenna, R.; Van Boemmel, A.; Goeke, J.; Hackett, A.; Field, M.; Christie, L.; Boyle, J.; Haan, E.; Nelson, J.; Turner, G.; Baynam, G.; Gillessen-Kaesbach, G.; Mueller, U.; Steinberger, D.; Budny, B.; Badura-Stronka, M.; Latos-Bielenska, A.; Ousager, L. B.; Wieacker, P.; Criado, G. Rodriguez; Bondeson, M-L; Anneren, G.; Dufke, A.; Cohen, M.; Van Maldergem, L.; Vincent-Delorme, C.; Echenne, B.; Simon-Bouy, B.; Kleefstra, T.; Willemsen, M.; Fryns, J-P; Devriendt, K.; Ullmann, R.; Vingron, M.; Wrogemann, K.; Wienker, T. F.; Tzschach, A.; van Bokhoven, H.; Gecz, J.; Jentsch, T. J.; Chen, W.; Ropers, H-H; Kalscheuer, V. M. 分享 收藏
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Identification and characterization of two novel JARID1C mutations: suggestion of an emerging genotype-phenotype correlation (vol 18, pg 330, 2010) Rujirabanjerd, Sinitdhorn; Nelson, John; Tarpey, Patrick S.; Hackett, Anna; Edkins, Sarah; Raymond, F. Lucy; Schwartz, Charles E.; Turner, Gillian; Iwase, Shigeki; Shi, Yang; Futreal, P. Andrew; Stratton, Michael R.; Gecz, Jozef 分享 收藏
RADIOTHERAPY IN THE TREATMENT OF PATIENTS WITH UNRESECTABLE EXTRAHEPATIC CHOLANGIOCARCINOMA Ghafoori, A. Paiman; Nelson, John W.; Willett, Christopher G.; Chino, Junzo; Tyler, Douglas S.; Hurwitz, Herbert I.; Uronis, Hope E.; Morse, Michael A.; Clough, Robert W.; Czito, Brian G. 分享 收藏
CCDC22: a novel candidate gene for syndromic X-linked intellectual disability Voineagu, I.; Huang, L.; Winden, K.; Lazaro, M.; Haan, E.; Nelson, J.; McGaughran, J.; Nguyen, L. S.; Friend, K.; Hackett, A.; Field, M.; Gecz, J.; Geschwind, D. 分享 收藏
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Intracerebral large artery disease in Aicardi-Goutieres syndrome implicates SAMHD1 in vascular homeostasis Ramesh, Venkateswaran; Bernardi, Bruno; Stafa, Altin; Garone, Caterina; Franzoni, Emilio; Abinun, Mario; Mitchell, Patrick; Mitra, Dipayan; Friswell, Mark; Nelson, John; Shalev, Stavit A.; Rice, Gillian I.; Gornall, Hannah; Szynkiewicz, Marcin; Aymard, Francois; Ganesan, Vijeya; Prendiville, Julie; Livingston, John H.; Crow, Yanick J. 分享 收藏
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MULTIMODALITY SURGICAL AND HYPERBARIC MANAGEMENT OF MANDIBULAR OSTEORADIONECROSIS Freiberger, John J.; Yoo, David S.; Dear, Guy de Lisle; McGraw, Thomas A.; Blakey, George H.; Burgos, Rebecca Padilla; Kraft, Kevin; Nelson, John W.; Moon, Richard E.; Piantadosi, Claude A. 分享 收藏
Identification and characterization of two novel JARID1C mutations: suggestion of an emerging genotype-phenotype correlation 两个新的JARID1C突变的鉴定和表征: 新出现的基因型-表型相关性的建议 Rujirabanjerd, Sinitdhorn; Nelson, John; Tarpey, Patrick S.; Hackett, Anna; Edkins, Sarah; Raymond, F. Lucy; Schwartz, Charles E.; Turner, Gillian; Iwase, Shigeki; Shi, Yang; Futreal, P. Andrew; Stratton, Michael R.; Gecz, Jozef 分享 收藏
Mutations in PYCR1 cause cutis laxa with progeroid features Reversade, Bruno; Escande-Beillard, Nathalie; Dimopoulou, Aikaterini; Fischer, Bjoern; Chng, Serene C.; Li, Yun; Shboul, Mohammad; Tham, Puay-Yoke; Kayserili, Huelya; Al-Gazali, Lihadh; Shahwan, Monzer; Brancati, Francesco; Lee, Hane; O'Connor, Brian D.; Schmidt-von Kegler, Mareen; Merriman, Barry; Nelson, Stanley F.; Masri, Amira; Alkazaleh, Fawaz; Guerra, Deanna; Ferrari, Paola; Nanda, Arti; Rajab, Anna; Markie, David; Gray, Mary; Nelson, John; Grix, Arthur; Sommer, Annemarie; Savarirayan, Ravi; Janecke, Andreas R.; Steichen, Elisabeth; Sillence, David; Hausser, Ingrid; Budde, Birgit; Nuernberg, Gudrun; Nuernberg, Peter; Seemann, Petra; Kunkel, Desiree; Zambruno, Giovanna; Dallapiccola, Bruno; Schuelke, Markus; Robertson, Stephen; Hamamy, Hanan; Wollnik, Bernd; Van Maldergem, Lionel; Mundlos, Stefan; Kornak, Uwe 分享 收藏
STEREOTACTIC BODY RADIOTHERAPY FOR LESIONS OF THE SPINE AND PARASPINAL REGIONS Nelson, John W.; Yoo, David S.; Sampson, John H.; Isaacs, Robert E.; Larrier, Nicole A.; Marks, Lawrence B.; Yin, Fang-Fang; Wu, Q. Jackie; Wang, Zhiheng; Kirkpatrick, John P. 分享 收藏
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