日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Clinical, in vitro, and in vivo evidence of WAPL as a novel cohesinopathy gene and phenotypic driver of 10q22.3q23.2 genomic disorder

临床、体外和体内证据表明,WAPL 是一种新的黏连蛋白病基因,也是 10q22.3q23.2 基因组疾病的表型驱动因素。

Boone, Philip M; Erdin, Serkan; Mohamed, Abucar; Haghshenas, Sadegheh; Faour, Kamli N W; Kao, Emeline; Fu, Jack; Auwerx, Chiara; Harripaul, Ricardo; Jana, Bimal; Springer, Danielle; Hallstrom, Grey; de Esch, Celine E F; Denhoff, Erica; Holmes, Lauren; Mohajeri, Kiana; Lemanski, John; Kerkhof, Jennifer; McConkey, Haley; Rzasa, Jessica; McCune, Madison J; Levy, Michael A; Grafstein, Julia; Larson, Matthew; Wright, Zsabre; Beauchamp, Roberta L; Lucente, Diane; Jamra, Rami Abou; Agrawal, Neena; Agrawal, Pankaj; Andersen, Erica F; Argilli, Emanuela; Araiza, Renee; Ballal, Sonia; Baxter, Megan F; Bergant, Gaber; Bertsche, Astrid; Bhavsar, Riya; Bortola, Debora R; Bothe, Viktoria; Brasch-Andersen, Charlotte; Braun, Dominique; Bruel, Ange-Line; Buchanan, Catherine; Burt, Nicholas D; Carvalho, Laura M L; Chiriatti, Luigi; Cogne, Benjamin; Collins, Ryan; Crunk, Amy; Currall, Benjamin; Delahaye-Duriez, Andree; Delanne, Julian; Denommé-Pichon, Anne-Sophie; Devriendt, Koenraad; Domingo, Aloysius; Duncan, Laura; Faivre, Laurence; Famularo, Laura; Fulton, Anne; Genetti, Casie; Harel, Tamar; Havlovicova, Marketa; Higgs, Jenny; Houlier, Marine; Iascone, Maria; Immken, LaDonna; Isidor, Bertrand; Kaiser, Frank J; Karbone, Kaycee; Kenna, Margaret; Khan, Amjad; Kimmig, Lara Kristina; Kleefstra, Tjitske; Kraus, Eva-Maria; Krepischi, Ana C V; Krey, Ilona; Ladda, Roger; Lanoue, Louise; Le Caignec, Cedric; Lewis, Zoe K; Lima, Gloria; Lynch, Sally Ann; Macek, Milan Jr; Maier, Olivier; Maitz, Silvia; Male, Alison; Malikova, Marcela; McKay, Victoria; Moldovan, Oana; Monteil, Danielle; Oliveira, Mariana Moysés; Munasinghe, Jeeva; Nakamori, Sachiko; Neuser, Sonja; Nizon, Mathilde; Nuttle, Xander; O'Keefe, Kathryn; Orec, Laura; Parenti, Ilaria; Peterlin, Borut; Pfundt, Rolph; Pouncey, Jill; Radio, Francesca Clementina; Robert, Leema; Rodan, Lance; Rosenberg-Fogler, Hallel; Rosenfeld, Jill A; Safraou, Hana; Salani, Monica; Schliesske, Sophia; Seaby, Eleanor G; Sell, Susan; Eliot Shearer, A; Sherr, Elliott; Shillington, Amelle; Siebold, Dorothea; Sinnema, Margje; Smith, Laura; Stegmann, Alexander P A; Stevens, Cathy; Stevens, Servi; Surette, Eric; Tartaglia, Marco; Taylor, Jenny C; Thompson, Michelle L; Tørring, Pernille M; Mau Them, Frederic Tran; Tsoulaki, Olga; Umair, Muhammad; Vanhoutte, Els; Vincent, Marie; Vitobello, Antonio; von Wintzingerode, Lydia; Watt, Amy; Wayhelova, Marketa; Wentzensen, Ingrid M; Wilson, William; Wojcik, Monica H; Yuan, Bo; Zampino, Giuseppe; Srivastava, Siddharth; Westphal, Dominik S; Riedhammer, Korbinian M; Joyce, Eric; Yadav, Rachita; Gusella, James; Tai, Derek J C; Sadikovic, Bekim; Pfeifer, Karl E; Talkowski, Michael E

Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction

突变特异性的病理生理机制定义了与SATB1功能障碍相关的不同神经发育障碍。

den Hoed, Joery; de Boer, Elke; Voisin, Norine; Dingemans, Alexander J M; Guex, Nicolas; Wiel, Laurens; Nellaker, Christoffer; Amudhavalli, Shivarajan M; Banka, Siddharth; Bena, Frederique S; Ben-Zeev, Bruria; Bonagura, Vincent R; Bruel, Ange-Line; Brunet, Theresa; Brunner, Han G; Chew, Hui B; Chrast, Jacqueline; Cimbalistienė, Loreta; Coon, Hilary; Délot, Emmanuèlle C; Démurger, Florence; Denommé-Pichon, Anne-Sophie; Depienne, Christel; Donnai, Dian; Dyment, David A; Elpeleg, Orly; Faivre, Laurence; Gilissen, Christian; Granger, Leslie; Haber, Benjamin; Hachiya, Yasuo; Abedi, Yasmin Hamzavi; Hanebeck, Jennifer; Hehir-Kwa, Jayne Y; Horist, Brooke; Itai, Toshiyuki; Jackson, Adam; Jewell, Rosalyn; Jones, Kelly L; Joss, Shelagh; Kashii, Hirofumi; Kato, Mitsuhiro; Kattentidt-Mouravieva, Anja A; Kok, Fernando; Kotzaeridou, Urania; Krishnamurthy, Vidya; Kučinskas, Vaidutis; Kuechler, Alma; Lavillaureix, Alinoë; Liu, Pengfei; Manwaring, Linda; Matsumoto, Naomichi; Mazel, Benoît; McWalter, Kirsty; Meiner, Vardiella; Mikati, Mohamad A; Miyatake, Satoko; Mizuguchi, Takeshi; Moey, Lip H; Mohammed, Shehla; Mor-Shaked, Hagar; Mountford, Hayley; Newbury-Ecob, Ruth; Odent, Sylvie; Orec, Laura; Osmond, Matthew; Palculict, Timothy B; Parker, Michael; Petersen, Andrea K; Pfundt, Rolph; Preikšaitienė, Eglė; Radtke, Kelly; Ranza, Emmanuelle; Rosenfeld, Jill A; Santiago-Sim, Teresa; Schwager, Caitlin; Sinnema, Margje; Snijders Blok, Lot; Spillmann, Rebecca C; Stegmann, Alexander P A; Thiffault, Isabelle; Tran, Linh; Vaknin-Dembinsky, Adi; Vedovato-Dos-Santos, Juliana H; Schrier Vergano, Samantha A; Vilain, Eric; Vitobello, Antonio; Wagner, Matias; Waheeb, Androu; Willing, Marcia; Zuccarelli, Britton; Kini, Usha; Newbury, Dianne F; Kleefstra, Tjitske; Reymond, Alexandre; Fisher, Simon E; Vissers, Lisenka E L M

Both Bone Forearm Infected Nonunion: Report of a One-Bone Free Fibula Flap Salvage and Literature Review

双骨前臂感染性骨不连:单骨游离腓骨皮瓣挽救术的报告及文献综述

Xu, Chris; Orec, Rob; Mathy, Jon A