未登录 ESPEN-ESPGHAN-ECFS guideline on nutrition care for cystic fibrosis Espen-espghan-ECFS囊性纤维化营养护理指南 Wilschanski, Michael; Munck, Anne; Carrion, Estefania; Cipolli, Marco; Collins, Sarah; Colombo, Carla; Declercq, Dimitri; Hatziagorou, Elpis; Hulst, Jessie; Kalnins, Daina; Katsagoni, Christina N.; Mainz, Jochen G.; Ribes-Koninckx, Carmen; Smith, Chris; Smith, Thomas; Van Biervliet, Stephanie; Chourdakis, Michael 分享 收藏
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Standards of care for CFTR variant-specific therapy (including modulators) for people with cystic fibrosi 囊性纤维瘤患者CFTR变体特异性治疗 (包括调节剂) 的护理标准 Southern, Kevin W.; Castellani, Carlo; Lammertyn, Elise; Smyth, Alan; VanDevanter, Donald; van Koningsbruggen-Rietschel, Silke; Barben, Juerg; Bevan, Amanda; Brokaar, Edwin; Collins, Sarah; Connett, Gary J.; Daniels, Thomas W. V.; Davies, Jane; Declercq, Dimitri; Gartner, Silvia; Gramegna, Andrea; Hamilton, Naomi; Hauser, Jenny; Kashirskaya, Nataliya; Kessler, Laurence; Lowdon, Jacqueline; Makukh, Halyna; Martin, Clemence; Morrison, Lisa; Nazareth, Dilip; Noordhoek, Jacquelien; O'Neill, Ciaran; Owen, Elizabeth; Oxley, Helen; Raraigh, Karen S.; Raynal, Caroline; Robinson, Karen; Roehmel, Jobst; Schwarz, Carsten; Sermet, Isabelle; Shteinberg, Michal; Sinha, Ian; Takawira, Constance; van Mourik, Peter; Verkleij, Marieke; Waller, Michael D.; Duff, Alistair 分享 收藏
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Adaptations in Hippo-Yap signaling and myofibroblast fate underlie scar-free ear appendage wound healing in spiny mice Hippo-yap信号和肌成纤维细胞命运的适应是多刺小鼠无疤耳附件伤口愈合的基础 Brewer, Chris M.; Nelson, Branden R.; Wakenight, Paul; Collins, Sarah J.; Okamura, Daryl M.; Dong, Xiu Rong; Mahoney, William M.; McKenna, Aaron; Shendure, Jay; Timms, Andrew; Millen, Kathleen J.; Majesky, Mark W. 分享 收藏
How can we relieve gastrointestinal symptoms in people with cystic fibrosis? An international qualitative survey Smith, Sherie; Rowbotham, Nicola; Davies, Gwyneth; Gathercole, Katie; Collins, Sarah J.; Elliott, Zoe; Herbert, Sophie; Allen, Lorna; Ng, Christabella; Smyth, Alan 分享 收藏
Redefining the Etiologic Landscape of Cerebellar Malformations Aldinger, Kimberly A.; Timms, Andrew E.; Thomson, Zachary; Mirzaa, Ghayda M.; Bennett, James T.; Rosenberg, Alexander B.; Roco, Charles M.; Hirano, Matthew; Abidi, Fatima; Haldipur, Parthiv; Cheng, Chi, V; Collins, Sarah; Park, Kaylee; Zeiger, Jordan; Overmann, Lynne M.; Alkuraya, Fowzan S.; Biesecker, Leslie G.; Braddock, Stephen R.; Cathey, Sara; Cho, Megan T.; Chung, Brian H. Y.; Everman, David B.; Zarate, Yuri A.; Jones, Julie R.; Schwartz, Charles E.; Goldstein, Amy; Hopkin, Robert J.; Krantz, Ian D.; Ladda, Roger L.; Leppig, Kathleen A.; McGillivray, Barbara C.; Sell, Susan; Wusik, Katherine; Gleeson, Joseph G.; Nickerson, Deborah A.; Bamshad, Michael J.; Gerrelli, Dianne; Lisgo, Steven N.; Seelig, Georg; Ishak, Gisele E.; Barkovich, A. James; Curry, Cynthia J.; Glass, Ian A.; Millen, Kathleen J.; Doherty, Dan; Dobyns, William B. 分享 收藏
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Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly Di Donato, Nataliya; Timms, Andrew E.; Aldinger, Kimberly A.; Mirzaa, Ghayda M.; Bennett, James T.; Collins, Sarah; Olds, Carissa; Mei, Davide; Chiari, Sara; Carvill, Gemma; Myers, Candace T.; Riviere, Jean-Baptiste; Zaki, Maha S.; Gleeson, Joseph G.; Rump, Andreas; Conti, Valerio; Parrini, Elena; Ross, M. Elizabeth; Ledbetter, David H.; Guerrini, Renzo; Dobyns, William B. 分享 收藏
Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly Alcantara, Diana; Timms, Andrew E.; Gripp, Karen; Baker, Laura; Park, Kaylee; Collins, Sarah; Cheng, Chi; Stewart, Fiona; Mehta, Sarju G.; Saggar, Anand; Sztriha, Laszlo; Zombor, Melinda; Caluseriu, Oana; Mesterman, Ronit; Van Allen, Margot I.; Jacquinet, Adeline; Ygberg, Sofia; Bernstein, Jonathan A.; Wenger, Aaron M.; Guturu, Harendra; Bejerano, Gill; Gomez-Ospina, Natalia; Lehman, Anna; Alfei, Enrico; Pantaleoni, Chiara; Conti, Valerio; Guerrini, Renzo; Moog, Ute; Graham, John M., Jr.; Hevner, Robert; Dobyns, William B.; O'Driscoll, Mark; Mirzaa, Ghayda M. 分享 收藏
The top 10 research priorities in cystic fibrosis developed by a partnership between people with CF and healthcare providers Rowbotham, Nicola J.; Smith, Sherie; Leighton, Paul A.; Rayner, Oli C.; Gathercole, Katie; Elliott, Zoe C.; Nash, Edward F.; Daniels, Tracey; Duff, Alistair J. A.; Collins, Sarah; Chandran, Suja; Peaple, Ursula; Hurley, Matthew N.; Brownlee, Keith; Smyth, Alan R. 分享 收藏
PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution Mirzaa, Ghayda; Timms, Andrew E.; Conti, Valerio; Boyle, Evan August; Girisha, Katta M.; Martin, Beth; Kircher, Martin; Olds, Carissa; Juusola, Jane; Collins, Sarah; Park, Kaylee; Carter, Melissa; Glass, Ian; Kroegeloh-Mann, Inge; Chitayat, David; Parikh, Aditi Shah; Bradshaw, Rachael; Torti, Erin; Braddock, Stephen; Burke, Leah; Ghedia, Sondhya; Stephan, Mark; Stewart, Fiona; Prasad, Chitra; Napier, Melanie; Saitta, Sulagna; Straussberg, Rachel; Gabbett, Michael; O'Connor, Bridget C.; Keegan, Catherine E.; Yin, Lim Jiin; Lai, Angeline Hwei Meeng; Martin, Nicole; McKinnon, Margaret; Addor, Marie-Claude; Boccuto, Luigi; Schwartz, Charles E.; Lanoel, Agustina; Conway, Robert L.; Devriendt, Koenraad; Tatton-Brown, Katrina; Pierpont, Mary Ella; Painter, Michael; Worgan, Lisa; Reggin, James; Hennekam, Raoul; Tsuchiya, Karen; Pritchard, Colin C.; Aracena, Mariana; Gripp, Karen W.; Cordisco, Maria; Van Esch, Hilde; Garavelli, Livia; Curry, Cynthia; Goriely, Anne; Kayserilli, Hulya; Shendure, Jay; Graham, John, Jr.; Guerrini, Renzo; Dobyns, William B. 分享 收藏
Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous Lipomatosis Bennett, James T.; Tan, Tiong Yang; Alcantara, Diana; Tetrault, Martine; Timms, Andrew E.; Jensen, Dana; Collins, Sarah; Nowaczyk, Malgorzata J. M.; Lindhurst, Marjorie J.; Christensen, Katherine M.; Braddock, Stephen R.; Brandling-Bennett, Heather; Hennekam, Raoul C. M.; Chung, Brian; Lehman, Anna; Su, John; Ng, SuYuen; Amor, David J.; Majewski, Jacek; Biesecker, Les G.; Boycott, Kym M.; Dobyns, William B.; O'Driscoll, Mark; Moog, Ute; McDonell, Laura M. 分享 收藏
Recognizable cerebellar dysplasia associated with mutations in multiple tubulin genes Oegema, Renske; Cushion, Thomas D.; Phelps, Ian G.; Chung, Seo-Kyung; Dempsey, Jennifer C.; Collins, Sarah; Mullins, Jonathan G. L.; Dudding, Tracy; Gill, Harinder; Green, Andrew J.; Dobyns, William B.; Ishak, Gisele E.; Rees, Mark I.; Doherty, Dan 分享 收藏
PI3K/AKT pathway mutations cause a spectrum of brain malformations from megalencephaly to focal cortical dysplasia Jansen, Laura A.; Mirzaa, Ghayda M.; Ishak, Gisele E.; O'Roak, Brian J.; Hiatt, Joseph B.; Roden, William H.; Gunter, Sonya A.; Christian, Susan L.; Collins, Sarah; Adams, Carissa; Riviere, Jean-Baptiste; St-Onge, Judith; Ojemann, Jeffrey G.; Shendure, Jay; Hevner, Robert F.; Dobyns, William B. 分享 收藏
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