未登录 A global survey about undiagnosed rare diseases: perspectives, challenges, and solutions Baldovino, Simone; Sciascia, Savino; Carta, Claudio; Salvatore, Marco; Cellai, Laura L.; Ferrari, Gianluca; Lumaka, Aime; Groft, Stephen; Alanay, Yasemin; Azam, Maleeha; Baynam, Gareth; Cederroth, Helene; la Paz, Eva Maria Cutiongco-de; Dissanayake, Vajira Harshadeva Weerabaddana; Giugliani, Roberto; Gonzaga-Jauregui, Claudia; Hettiarachchi, Dineshani; Kvlividze, Oleg; Landoure, Guida; Makay, Prince; Melegh, Bela; Ozbek, Ugur; Pagava, Karaman; Puri, Ratna Dua; Romero, Vaness I.; Scaria, Vinod; Jamuar, Saumya S.; Shotelersuk, Vorasuk; Roccatello, Dario; Gahl, William A.; Wiafe, Samuel A.; Bodamer, Olaf; Posada, Manuel; Taruscio, Domenica 分享 收藏
Operational description of rare diseases: a reference to improve the recognition and visibility of rare diseases 罕见病的操作描述: 提高罕见病的识别和知名度的参考 Wang, Chiuhui Mary; Whiting, Amy Heagle; Rath, Ana; Anido, Roberta; Ardigo, Diego; Baynam, Gareth; Dawkins, Hugh; Hamosh, Ada; Le Cam, Yann; Malherbe, Helen; Molster, Caron M.; Monaco, Lucia; Padilla, Carmencita D.; Pariser, Anne R.; Robinson, Peter N.; Rodwell, Charlotte; Schaefer, Franz; Weber, Stefanie; Macchia, Flaminia 分享 收藏
Cluster analysis and visualisation of electronic health records data to identify undiagnosed patients with rare genetic diseases Moynihan, Daniel; Monaco, Sean; Ting, Teck Wah; Narasimhalu, Kaavya; Hsieh, Jenny; Kam, Sylvia; Lim, Jiin Ying; Lim, Weng Khong; Davila, Sonia; Bylstra, Yasmin; Balakrishnan, Iswaree Devi; Heng, Mark; Chia, Elian; Yeo, Khung Keong; Goh, Bee Keow; Gupta, Ritu; Tan, Tele; Baynam, Gareth; Jamuar, Saumya Shekhar 分享 收藏
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Unmet needs in countries participating in the undiagnosed diseases network international: an international survey considering national health care and economic indicators Sciascia, Savino; Roccatello, Dario; Salvatore, Marco; Carta, Claudio; Cellai, Laura L.; Ferrari, Gianluca; Lumaka, Aime; Groft, Stephen; Alanay, Yasemin; Azam, Maleeha; Baynam, Gareth; Cederroth, Helene; Cutiongco-de la Paz, Eva Maria; Dissanayake, Vajira Harshadeva Weerabaddana; Giugliani, Roberto; Gonzaga-Jauregui, Claudia; Hettiarachchi, Dineshani; Kvlividze, Oleg; Landoure, Guida; Makay, Prince; Melegh, Bela; Ozbek, Ugur; Puri, Ratna Dua; Romero, Vanessa I.; Scaria, Vinod; Jamuar, Saumya S.; Shotelersuk, Vorasuk; Gahl, William A.; Wiafe, Samuel A.; Bodamer, Olaf; Posada, Manuel; Taruscio, Domenica 分享 收藏
Patterns, trends, and factors influencing hospitalizations for craniosynostosis in Western Australia. A population-based study Junaid, Mohammed; Slack-Smith, Linda; Wong, Kingsley; Hewitt, Timothy; Bourke, Jenny; Baynam, Gareth; Calache, Hanny; Leonard, Helen 分享 收藏
Undiagnosed diseases: Needs and opportunities in 20 countries participating in the Undiagnosed Diseases Network International Taruscio, Domenica; Salvatore, Marco; Lumaka, Aime; Carta, Claudio; Cellai, Laura L.; Ferrari, Gianluca; Sciascia, Savino; Groft, Stephen; Alanay, Yasemin; Azam, Maleeha; Baynam, Gareth; Cederroth, Helene; de la Paz, Eva Maria; Dissanayake, Vajira Harshadeva Weerabaddana; Giugliani, Roberto; Gonzaga-Jauregui, Claudia; Hettiarachchi, Dineshani; Kvlividze, Oleg; Landoure, Guida; Makay, Prince; Melegh, Bela; Ozbek, Ugur; Puri, Ratna Dua; Romero, Vanessa; Scaria, Vinod; Jamuar, Saumya S.; Shotelersuk, Vorasuk; Roccatello, Dario; Gahl, William A.; Wiafe, Samuel A.; Bodamer, Olaf; Posada, Manuel 分享 收藏
Research on rare diseases: ten years of progress and challenges at IRDiRC Monaco, Lucia; Zanello, Galliano; Baynam, Gareth; Jonker, Anneliene H.; Julkowska, Daria; Hartman, Adam L.; O'Connor, Daniel; Wang, Chiuhui Mary; Wong-Rieger, Durhane; Pearce, David A. 分享 收藏
Large-scale open-source three-dimensional growth curves for clinical facial assessment and objective description of facial dysmorphism 用于临床面部评估和面部畸形客观描述的大规模开源三维生长曲线 Matthews, Harold S.; Palmer, Richard L.; Baynam, Gareth S.; Quarrell, Oliver W.; Klein, Ophir D.; Spritz, Richard A.; Hennekam, Raoul C.; Walsh, Susan; Shriver, Mark; Weinberg, Seth M.; Hallgrimsson, Benedikt; Hammond, Peter; Penington, Anthony J.; Peeters, Hilde; Claes, Peter D. 分享 收藏
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The Deep Genome Project Lloyd, K. C. Kent; Adams, David J.; Baynam, Gareth; Beaudet, Arthur L.; Bosch, Fatima; Boycott, Kym M.; Braun, Robert E.; Caulfield, Mark; Cohn, Ronald; Dickinson, Mary E.; Dobbie, Michael S.; Flenniken, Ann M.; Flicek, Paul; Galande, Sanjeev; Gao, Xiang; Grobler, Anne; Heaney, Jason D.; Herault, Yann; De Angelis, Martin Hrabe; Lupski, James R.; Lyonnet, Stanislas; Mallon, Ann-Marie; Mammano, Fabio; MacRae, Calum A.; McInnes, Roderick; McKerlie, Colin; Meehan, Terrence F.; Murray, Stephen A.; Nutter, Lauryl M. J.; Obata, Yuichi; Parkinson, Helen; Pepper, Michael S.; Sedlacek, Radislav; Seong, Je Kyung; Shiroishi, Toshihiko; Smedley, Damian; Tocchini-Valentini, Glauco; Valle, David; Wang, Chi-Kuang Leo; Wells, Sara; White, Jacqueline; Wurst, Wolfgang; Xu, Ying; Brown, Steve D. M. 分享 收藏
How many rare diseases are there? 罕见病有多少种？ Haendel, Melissa; Vasilevsky, Nicole; Unni, Deepak; Bologa, Cristian; Harris, Nomi; Rehm, Heidi; Hamosh, Ada; Baynam, Gareth; Groza, Tudor; McMurry, Julie; Dawkins, Hugh; Rath, Ana; Thaxon, Courtney; Bocci, Giovanni; Joachimiak, Marcin P.; Koehler, Sebastian; Robinson, Peter N.; Mungall, Chris; Oprea, Tudor I. 分享 收藏
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Genomic Testing for Human Health and Disease Across the Life Cycle: Applications and Ethical, Legal, and Social Challenges 整个生命周期中人类健康和疾病的基因组检测: 应用和伦理，法律和社会挑战 Bilkey, Gemma A.; Burns, Belinda L.; Coles, Emily P.; Bowman, Faye L.; Beilby, John P.; Pachter, Nicholas S.; Baynam, Gareth; Dawkins, Hugh J. S.; Nowak, Kristen J.; Weeramanthri, Tarun S. 分享 收藏
Healthcare System Priorities for Successful Integration of Genomics: An Australian Focus Burns, Belinda L.; Bilkey, Gemma A.; Coles, Emily P.; Bowman, Faye L.; Beilby, John P.; Pachter, Nicholas S.; Baynam, Gareth; Dawkins, Hugh J. S.; Weeramanthri, Tarun S.; Nowak, Kristen J. 分享 收藏
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Maternal variants in NLRP and other maternal effect proteins are associated with multilocus imprinting disturbance in offspring Begemann, Matthias; Rezwan, Faisal I.; Beygo, Jasmin; Docherty, Louise E.; Kolarova, Julia; Schroeder, Christopher; Buiting, Karin; Chokkalingam, Kamal; Degenhardt, Franziska; Wakeling, Emma L.; Kleinle, Stephanie; Fassrainer, Daniela Gonzalez; Oehl-Jaschkowitz, Barbara; Turner, Claire L. S.; Patalan, Michal; Gizewska, Maria; Binder, Gerhard; Can Thi Bich Ngoc; Vu Chi Dung; Mehta, Sarju G.; Baynam, Gareth; Hamilton-Shield, Julian P.; Aljareh, Sara; Lokulo-Sodipe, Oluwakemi; Horton, Rachel; Siebert, Reiner; Elbracht, Miriam; Temple, Isabel Karen; Eggermann, Thomas; Mackay, Deborah J. G. 分享 收藏
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