未登录KBG syndrome: videoconferencing and use of artificial intelligence driven facial phenotyping in 25 new patients
Guo, Lily; Park, Jiyeon; Yi, Edward; Marchi, Elaine; Hsieh, Tzung-Chien; Kibalnyk, Yana; Moreno-Saez, Yolanda; Biskup, Saskia; Puk, Oliver; Beger, Carmela; Li, Quan; Wang, Kai; Voronova, Anastassia; Krawitz, Peter M.; Lyon, Gholson J. .png)
分享.png)
收藏分享 收藏 Imbalances in the eye lens proteome are linked to cataract formationSchmid, Philipp W. N.; Lim, Nicole C. H.; Peters, Carsten; Back, Katrin C.; Bourgeois, Benjamin; Pirolt, Franz; Richter, Bettina; Peschek, Jirka; Puk, Oliver; Amarie, Oana V.; Dalke, Claudia; Haslbeck, Martin; Weinkauf, Sevil; Madl, Tobias; Graw, Jochen; Buchner, Johannes 分享 收藏 Mutation in Bmpr1b Leads to Optic Disc Coloboma and Ventral Retinal Gliosis in MiceYan, Xiaohe; Atorf, Jenny; Ramos, David; Thiele, Frank; Weber, Susanne; Dalke, Claudia; Sun, Minxuan; Puk, Oliver; Michel, Dian; Fuchs, Helmut; Klaften, Matthias; Przemeck, Gerhard K. H.; Sabrautzki, Sibylle; Favor, Jack; Ruberte, Jesus; Kremers, Jan; de Angelis, Martin Hrabe; Graw, Jochen 分享 收藏 MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsisMak, Christopher C. Y.; Doherty, Dan; Lin, Angela E.; Vegas, Nancy; Cho, Megan T.; Viot, Geraldine; Dimartino, Clemantine; Weisfeld-Adams, James D.; Lessel, Davor; Joss, Shelagh; Li, Chumei; Gonzaga-Jauregui, Claudia; Zarate, Yuri A.; Ehmke, Nadja; Horn, Denise; Troyer, Caitlin; Kant, Sarina G.; Lee, Youngha; Ishak, Gisele E.; Leung, Gordon; Pritchard, Amanda Barone; Yang, Sandra; Bend, Eric G.; Filippini, Francesca; Roadhouse, Chelsea; Lebrun, Nicolas; Mehaffey, Michele G.; Martin, Pierre-Marie; Apple, Benjamin; Millan, Francisca; Puk, Oliver; Hoffer, Mariette J. V.; Henderson, Lindsay B.; McGowan, Ruth; Wentzensen, Ingrid M.; Pei, Steven; Zahir, Farah R.; Yu, Mullin; Gibson, William T.; Seman, Ann; Steeves, Marcie; Murrell, Jill R.; Luettgen, Sabine; Francisco, Elizabeth; Strom, Tim M.; Amlie-Wolf, Louise; Kaindl, Angela M.; Wilson, William G.; Halbach, Sara; Basel-Salmon, Lina; Lev-El, Noa; Denecke, Jonas; Vissers, Lisenka E. L. M.; Radtke, Kelly; Chelly, Jamel; Zackai, Elaine; Friedman, Jan M.; Bamshad, Michael J.; Nickerson, Deborah A.; Reid, Russell R.; Devriendt, Koenraad; Chae, Jong-Hee; Stolerman, Elliot; McDougall, Carey; Powis, Zoe; Bienvenu, Thierry; Tan, Tiong Y.; Orenstein, Naama; Dobyns, William B.; Shieh, Joseph T.; Choi, Murim; Waggoner, Darrel; Gripp, Karen W.; Parker, Michael J.; Stoler, Joan; Lyonnet, Stanislas; Cormier-Daire, Valerie; Viskochil, David; Hoffman, Trevor L.; Amiel, Jeanne; Chung, Brian H. Y.; Gordon, Christopher T. 分享 收藏 分享 收藏 Analysis of mammalian gene function through broad-based phenotypic screens across a consortium of mouse clinicsde Angelis, Martin Hrabe; Nicholson, George; Selloum, Mohammed; White, Jacqueline K.; Morgan, Hugh; Ramirez-Solis, Ramiro; Sorg, Tania; Wells, Sara; Fuchs, Helmut; Fray, Martin; Adams, David J.; Adams, Niels C.; Adler, Thure; Aguilar-Pimentel, Antonio; Ali-Hadji, Dalila; Amann, Gregory; Andre, Philippe; Atkins, Sarah; Auburtin, Aurelie; Ayadi, Abdel; Becker, Julien; Becker, Lore; Bedu, Elodie; Bekeredjian, Raffi; Birling, Marie-Christine; Blake, Andrew; Bottomley, Joanna; Bowl, Michael R.; Brault, Veronique; Busch, Dirk H.; Bussell, James N.; Calzada-Wack, Julia; Cater, Heather; Champy, Marie-France; Charles, Philippe; Chevalier, Claire; Chiani, Francesco; Codner, Gemma F.; Combe, Roy; Cox, Roger; Dalloneau, Emilie; Dierich, Andre; Di Fenza, Armida; Doe, Brendan; Duchon, Arnaud; Eickelberg, Oliver; Esapa, Chris T.; El Fertak, Lahcen; Feigel, Tanja; Emelyanova, Irina; Estabel, Jeanne; Favor, Jack; Flenniken, Ann; Gambadoro, Alessia; Garrett, Lilian; Gates, Hilary; Gerdin, Anna-Karin; Gkoutos, George; Greenaway, Simon; Glasl, Lisa; Goetz, Patrice; Da Cruz, Isabelle Goncalves; Goetz, Alexander; Graw, Jochen; Guimond, Alain; Hans, Wolfgang; Hicks, Geoff; Hoelter, Sabine M.; Hoefler, Heinz; Hancock, John M.; Hoehndorf, Robert; Hough, Tertius; Houghton, Richard; Hurt, Anja; Ivandic, Boris; Jacobs, Hughes; Jacquot, Sylvie; Jones, Nora; Karp, Natasha A.; Katus, Hugo A.; Kitchen, Sharon; Klein-Rodewald, Tanja; Klingenspor, Martin; Klopstock, Thomas; Lalanne, Valerie; Leblanc, Sophie; Lengger, Christoph; le Marchand, Elise; Ludwig, Tonia; Lux, Aline; McKerlie, Colin; Maier, Holger; Mandel, Jean-Louis; Marschall, Susan; Mark, Manuel; Melvin, David G.; Meziane, Hamid; Micklich, Kateryna; Mittelhauser, Christophe; Monassier, Laurent; Moulaert, David; Muller, Stephanie; Naton, Beatrix; Neff, Frauke; Nolan, Patrick M.; Nutter, Lauryl M. J.; Ollert, Markus; Pavlovic, Guillaume; Pellegata, Natalia S.; Peter, Emilie; Petit-Demouliere, Benoit; Pickard, Amanda; Podrini, Christine; Potter, Paul; Pouilly, Laurent; Puk, Oliver; Richardson, David; Rousseau, Stephane; Quintanilla-Fend, Leticia; Quwailid, Mohamed M.; Racz, Ildiko; Rathkolb, Birgit; Riet, Fabrice; Rossant, Janet; Roux, Michel; Rozman, Jan; Ryder, Edward; Salisbury, Jennifer; Santos, Luis; Schaeble, Karl-Heinz; Schiller, Evelyn; Schrewe, Anja; Schulz, Holger; Steinkamp, Ralf; Simon, Michelle; Stewart, Michelle; Stoeger, Claudia; Stoeger, Tobias; Sun, Minxuan; Sunter, David; Teboul, Lydia; Tilly, Isabelle; Tocchini-Valentini, Glauco P.; Tost, Monica; Treise, Irina; Vasseur, Laurent; Velot, Emilie; Vogt-Weisenhorn, Daniela; Wagner, Christelle; Walling, Alison; Wattenhofer-Donze, Marie; Weber, Bruno; Wendling, Olivia; Westerberg, Henrik; Willershaeuser, Monja; Wolf, Eckhard; Wolter, Anne; Wood, Joe; Wurst, Wolfgang; Yildirim, Ali Oender; Zeh, Ramona; Zimmer, Andreas; Zimprich, Annemarie; Holmes, Chris; Steel, Karen P.; Herault, Yann; Gailus-Durner, Valerie; Mallon, Ann-Marie; Brown, Steve D. M. 分享 收藏 Meis1 coordinates a network of genes implicated in eye development and microphthalmiaMarcos, Severine; Gonzalez-Lazaro, Monica; Beccari, Leonardo; Carramolino, Laura; Jesus Martin-Bermejo, Maria; Amarie, Oana; Mateos-San Martin, Daniel; Torroja, Carlos; Bogdanovic, Ozren; Doohan, Roisin; Puk, Oliver; de Angelis, Martin Hrabe; Graw, Jochen; Luis Gomez-Skarmeta, Jose; Casares, Fernando; Torres, Miguel; Bovolenta, Paola 分享 收藏 分享 收藏 分享 收藏 A comparative phenotypic and genomic analysis of C57BL/6J and C57BL/6N mouse strainsC57BL/6J和C57BL/6N小鼠品系的比较表型和基因组分析Simon, Michelle M.; Greenaway, Simon; White, Jacqueline K.; Fuchs, Helmut; Gailus-Durner, Valerie; Wells, Sara; Sorg, Tania; Wong, Kim; Bedu, Elodie; Cartwright, Elizabeth J.; Dacquin, Romain; Djebali, Sophia; Estabel, Jeanne; Graw, Jochen; Ingham, Neil J.; Jackson, Ian J.; Lengeling, Andreas; Mandillo, Silvia; Marvel, Jacqueline; Meziane, Hamid; Preitner, Frederic; Puk, Oliver; Roux, Michel; Adams, David J.; Atkins, Sarah; Ayadi, Abdel; Becker, Lore; Blake, Andrew; Brooker, Debra; Cater, Heather; Champy, Marie-France; Combe, Roy; Danecek, Petr; di Fenza, Armida; Gates, Hilary; Gerdin, Anna-Karin; Golini, Elisabetta; Hancock, John M.; Hans, Wolfgang; Hoelter, Sabine M.; Hough, Tertius; Jurdic, Pierre; Keane, Thomas M.; Morgan, Hugh; Mueller, Werner; Neff, Frauke; Nicholson, George; Pasche, Bastian; Roberson, Laura-Anne; Rozman, Jan; Sanderson, Mark; Santos, Luis; Selloum, Mohammed; Shannon, Carl; Southwell, Anne; Tocchini-Valentini, Glauco P.; Vancollie, Valerie E.; Westerberg, Henrik; Wurst, Wolfgang; Zi, Min; Yalcin, Binnaz; Ramirez-Solis, Ramiro; Steel, Karen P.; Mallon, Ann-Marie; de Angelis, Martin Hrabe; Herault, Yann; Brown, Steve D. M. 分享 收藏 Rapamycin extends murine lifespan but has limited effects on agingNeff, Frauke; Flores-Dominguez, Diana; Ryan, Devon R.; Horsch, Marion; Schroeder, Susanne; Adler, Thure; Afonso, Luciana Caminha; Aguilar-Pimentel, Juan Antonio; Becker, Lore; Garrett, Lillian; Hans, Wolfgang; Hettich, Moritz M.; Holtmeier, Richard; Hoelter, Sabine M.; Moreth, Kristin; Prehn, Cornelia; Puk, Oliver; Racz, Ildiko; Rathkolb, Birgit; Rozman, Jan; Naton, Beatrix; Ordemann, Rainer; Adamski, Jerzy; Beckers, Johannes; Bekeredjian, Raffi; Busch, Dirk H.; Ehninger, Gerhard; Graw, Jochen; Hoefler, Heinz; Klingenspor, Martin; Klopstock, Thomas; Ollert, Markus; Stypmann, Joerg; Wolf, Eckhard; Wurst, Wolfgang; Zimmer, Andreas; Fuchs, Helmut; Gailus-Durner, Valerie; de Angelis, Martin Hrabe; Ehninger, Dan 分享 收藏 Permanent Neonatal Diabetes in INSC94Y Transgenic PigsRenner, Simone; Braun-Reichhart, Christina; Blutke, Andreas; Herbach, Nadja; Emrich, Daniela; Streckel, Elisabeth; Wuensch, Annegret; Kessler, Barbara; Kurome, Mayuko; Baehr, Andrea; Klymiuk, Nikolai; Krebs, Stefan; Puk, Oliver; Nagashima, Hiroshi; Graw, Jochen; Blum, Helmut; Wanke, Ruediger; Wolf, Eckhard 分享 收藏 Phenotypic Characterization of Diabetic INSC94Y Transgenic PigsRenner, S.; Braun, C.; Blutke, A.; Herbach, N.; Wuensch, A.; Kessler, B.; Kurome, M.; Krebs, S.; Puk, O.; Nagashima, H.; Graw, J.; Blum, H.; Wanke, R.; Wolf, E. 分享 收藏 Cytochrome c oxidase subunit 4 isoform 2-knockout mice show reduced enzyme activity, airway hyporeactivity, and lung pathologyHuettemann, Maik; Lee, Icksoo; Gao, Xiufeng; Pecina, Petr; Pecinova, Alena; Liu, Jenney; Aras, Siddhesh; Sommer, Natascha; Sanderson, Thomas H.; Tost, Monica; Neff, Frauke; Aguilar-Pimentel, Juan Antonio; Becker, Lore; Naton, Beatrix; Rathkolb, Birgit; Rozman, Jan; Favor, Jack; Hans, Wolfgang; Prehn, Cornelia; Puk, Oliver; Schrewe, Anja; Sun, Minxuan; Hoefler, Heinz; Adamski, Jerzy; Bekeredjian, Raffi; Graw, Jochen; Adler, Thure; Busch, Dirk H.; Klingenspor, Martin; Klopstock, Thomas; Ollert, Markus; Wolf, Eckhard; Fuchs, Helmut; Gailus-Durner, Valerie; de Angelis, Martin Hrabe; Weissmann, Norbert; Doan, Jeffrey W.; Bassett, David J. P.; Grossman, Lawrence I. 分享 收藏 Requirement of the RNA-editing Enzyme ADAR2 for Normal Physiology in MiceHorsch, Marion; Seeburg, Peter H.; Adler, Thure; Aguilar-Pimentel, Juan Antonio; Becker, Lore; Calzada-Wack, Julia; Garrett, Lilian; Goetz, Alexander; Hans, Wolfgang; Higuchi, Miyoko; Hoelter, Sabine M.; Naton, Beatrix; Prehn, Cornelia; Puk, Oliver; Racz, Ildiko; Rathkolb, Birgit; Rozman, Jan; Schrewe, Anja; Adamski, Jerzy; Busch, Dirk H.; Esposito, Irene; Graw, Jochen; Ivandic, Boris; Klingenspor, Martin; Klopstock, Thomas; Mempel, Martin; Ollert, Markus; Schulz, Holger; Wolf, Eckhard; Wurst, Wolfgang; Zimmer, Andreas; Gailus-Durner, Valerie; Fuchs, Helmut; de Angelis, Martin Hrabe; Beckers, Johannes 分享 收藏 分享 收藏 Mouse phenotypingFuchs, Helmut; Gailus-Durner, Valerie; Adler, Thure; Aguilar-Pimentel, Juan Antonio; Becker, Lore; Calzada-Wack, Julia; Da Silva-Buttkus, Patricia; Neff, Frauke; Goetz, Alexander; Hans, Wolfgang; Hoelter, Sabine M.; Horsch, Marion; Kastenmueller, Gabi; Kemter, Elisabeth; Lengger, Christoph; Maier, Holger; Matloka, Mikolaj; Moeller, Gabriele; Naton, Beatrix; Prehn, Cornelia; Puk, Oliver; Racz, Ildiko; Rathkolb, Birgit; Roemisch-Margl, Werner; Rozman, Jan; Wang-Sattler, Rui; Schrewe, Anja; Stoeger, Claudia; Tost, Monica; Adamski, Jerzy; Aigner, Bernhard; Beckers, Johannes; Behrendt, Heidrun; Busch, Dirk H.; Esposito, Irene; Graw, Jochen; Illig, Thomas; Ivandic, Boris; Klingenspor, Martin; Klopstock, Thomas; Kremmer, Elisabeth; Mempel, Martin; Neschen, Susanne; Ollert, Markus; Schulz, Holger; Suhre, Karsten; Wolf, Eckhard; Wurst, Wolfgang; Zimmer, Andreas; de Angelis, Martin Hrabe 分享 收藏 分享 收藏 A New Fgf10 Mutation in the Mouse Leads to Atrophy of the Harderian Gland and Slit-Eye Phenotype in Heterozygotes: A Novel Model for Dry-Eye Disease?Puk, Oliver; Esposito, Irene; Soeker, Torben; Loester, Jana; Budde, Birgit; Nuernberg, Peter; Michel-Soewario, Dian; Fuchs, Helmui; Wolf, Eckhard; de Angelis, Martin Hrabe; Graw, Jochen 分享 收藏 
.png){kind=icon}
.png){kind=icon}
.png){kind=icon}
.png){kind=icon}