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

Spliceosome malfunction causes neurodevelopmental disorders with overlapping features

剪接体功能障碍会导致具有重叠特征的神经发育障碍。

Li, Dong; Wang, Qin; Bayat, Allan; Battig, Mark R; Zhou, Yijing; Bosch, Daniëlle Gm; van Haaften, Gijs; Granger, Leslie; Petersen, Andrea K; Pérez-Jurado, Luis A; Aznar-Laín, Gemma; Aneja, Anushree; Hancarova, Miroslava; Bendova, Sarka; Schwarz, Martin; Kremlikova Pourova, Radka; Sedlacek, Zdenek; Keena, Beth A; March, Michael E; Hou, Cuiping; O'Connor, Nora; Bhoj, Elizabeth J; Harr, Margaret H; Lemire, Gabrielle; Boycott, Kym M; Towne, Meghan; Li, Megan; Tarnopolsky, Mark; Brady, Lauren; Parker, Michael J; Faghfoury, Hanna; Parsley, Lea Kristin; Agolini, Emanuele; Dentici, Maria Lisa; Novelli, Antonio; Wright, Meredith; Palmquist, Rachel; Lai, Khanh; Scala, Marcello; Striano, Pasquale; Iacomino, Michele; Zara, Federico; Cooper, Annina; Maarup, Timothy J; Byler, Melissa; Lebel, Robert Roger; Balci, Tugce B; Louie, Raymond; Lyons, Michael; Douglas, Jessica; Nowak, Catherine; Afenjar, Alexandra; Hoyer, Juliane; Keren, Boris; Maas, Saskia M; Motazacker, Mahdi M; Martinez-Agosto, Julian A; Rabani, Ahna M; McCormick, Elizabeth M; Falk, Marni J; Ruggiero, Sarah M; Helbig, Ingo; Møller, Rikke S; Tessarollo, Lino; Tomassoni Ardori, Francesco; Palko, Mary Ellen; Hsieh, Tzung-Chien; Krawitz, Peter M; Ganapathi, Mythily; Gelb, Bruce D; Jobanputra, Vaidehi; Wilson, Ashley; Greally, John; Jacquemont, Sébastien; Jizi, Khadijé; Bruel, Ange-Line; Quelin, Chloé; Misra, Vinod K; Chick, Erika; Romano, Corrado; Greco, Donatella; Arena, Alessia; Morleo, Manuela; Nigro, Vincenzo; Seyama, Rie; Uchiyama, Yuri; Matsumoto, Naomichi; Taira, Ryoji; Tashiro, Katsuya; Sakai, Yasunari; Yigit, Gökhan; Wollnik, Bernd; Wagner, Michael; Kutsche, Barbara; Hurst, Anna Ce; Thompson, Michelle L; Schmidt, Ryan; Randolph, Linda; Spillmann, Rebecca C; Shashi, Vandana; Higginbotham, Edward J; Cordeiro, Dawn; Carnevale, Amanda; Costain, Gregory; Khan, Tayyaba; Funalot, Benoît; Tran Mau-Them, Frederic; Fernandez Garcia Moya, Luis; García-Miñaúr, Sixto; Osmond, Matthew; Chad, Lauren; Quercia, Nada; Carrasco, Diana; Li, Chumei; Sanchez-Valle, Amarilis; Kelley, Meghan; Nizon, Mathilde; Jensson, Brynjar O; Sulem, Patrick; Stefansson, Kari; Gorokhova, Svetlana; Busa, Tiffany; Rio, Marlène; Hadj Habdallah, Hamza; Lesieur-Sebellin, Marion; Amiel, Jeanne; Pingault, Véronique; Mercier, Sandra; Vincent, Marie; Philippe, Christophe; Fatus-Fauconnier, Clemence; Friend, Kathryn; Halligan, Rebecca K; Biswas, Sunita; Rosser, Jane; Shoubridge, Cheryl; Corbett, Mark; Barnett, Christopher; Gecz, Jozef; Leppig, Kathleen; Slavotinek, Anne; Marcelis, Carlo; Pfundt, Rolph; de Vries, Bert Ba; van Slegtenhorst, Marjon A; Brooks, Alice S; Cogne, Benjamin; Rambaud, Thomas; Tümer, Zeynep; Zackai, Elaine H; Akizu, Naiara; Song, Yuanquan; Hakonarson, Hakon

Novel insights into the phenotypic spectrum and pathogenesis of Hardikar syndrome.

对哈迪卡综合征的表型谱和发病机制的新见解

Strong Alanna, March Michael E, Cardinale Christopher J, Liu Yichuan, Battig Mark R, Finoti Livia Sertori, Matsuoka Leticia S, Watson Deborah, Sridhar Sindura, Jarrett James F, Cannon India, Li Dong, Bhoj Elizabeth, Zackai Elaine H, Rand Elizabeth B, Wenger Tara, Lerman Bruce B, Shikany Amy, Weaver K Nicole, Hakonarson Hakon

Genomic profiling informs diagnoses and treatment in vascular anomalies

基因组分析为血管异常的诊断和治疗提供参考

Dong Li #, Sarah E Sheppard #, Michael E March, Mark R Battig, Lea F Surrey, Abhay S Srinivasan, Leticia S Matsuoka, Lifeng Tian, Fengxiang Wang, Christoph Seiler, Jill Dayneka, Alexandra J Borst, Mary C Matos, Scott M Paulissen, Ganesh Krishnamurthy, Bede Nriagu, Tamjeed Sikder, Melissa Casey, Lydi

Lymphatic disorders caused by mosaic, activating KRAS variants respond to MEK inhibition

嵌合性激活型 KRAS 变异引起的淋巴系统疾病对 MEK 抑制有反应

Sarah E Sheppard, Michael E March, Christoph Seiler, Leticia S Matsuoka, Sophia E Kim, Charlly Kao, Adam I Rubin, Mark R Battig, Nahla Khalek, Erica Schindewolf, Nora O'Connor, Erin Pinto, Jessica Rc Priestley, Victoria R Sanders, Rojeen Niazi, Arupa Ganguly, Cuiping Hou, Diana Slater, Ilona J Fried

Treatment of severe Kaposiform lymphangiomatosis positive for NRAS mutation by MEK inhibition

MEK抑制剂治疗NRAS突变阳性的重度卡波西样淋巴管瘤病

Chowers, Guy; Abebe-Campino, Gadi; Golan, Hana; Vivante, Asaf; Greenberger, Shoshana; Soudack, Michalle; Barkai, Galia; Fox-Fisher, Ilana; Li, Dong; March, Michael; Battig, Mark R; Hakonarson, Hakon; Adams, Denise; Dori, Yoav; Dagan, Adi

Investigation of the Thermal Stability of Proteinase K for the Melt Processing of Poly(l-lactide)

蛋白酶K对聚乳酸熔融加工的热稳定性研究

Chengzhang Xu, Alexander Battig, Bernhard Schartel, Renée Siegel, Jürgen Senker, Inge von der Forst, Carlo Unverzagt, Seema Agarwal, Andreas Möglich, Andreas Greiner

Imparting Fire Retardancy and Smoke Suppression to Leather during Tanning Processes

在鞣制过程中赋予皮革阻燃和抑烟性能

Guadalupe Sanchez Olivares, Alexander Battig, Sebastian M Goller, Daniel Rockel, Victor Ramírez González, Bernhard Schartel

A multicenter experience using adipose-derived mesenchymal stem cell therapy for cats with chronic, non-responsive gingivostomatitis

使用脂肪间充质干细胞治疗患有慢性无反应性龈口炎的猫的多中心经验

Boaz Arzi, Santiago Peralta, Nadine Fiani, Natalia Vapniarsky, Nopmanee Taechangam, Ubaldo Delatorre, Kaitlin C Clark, Naomi J Walker, Megan R Loscar, Milinda J Lommer, Amy Fulton, Jean Battig, Dori L Borjesson

Molecular Firefighting-How Modern Phosphorus Chemistry Can Help Solve the Challenge of Flame Retardancy

分子灭火——现代磷化学如何帮助解决阻燃难题

Velencoso, Maria M; Battig, Alexander; Markwart, Jens C; Schartel, Bernhard; Wurm, Frederik R

Optimizing endothelial cell functionalization for cell therapy of vascular proliferative disease using a direct contact co-culture system

利用直接接触共培养系统优化内皮细胞功能化,用于血管增生性疾病的细胞治疗

Battig, Mark R; Fishbein, Ilia; Levy, Robert J; Alferiev, Ivan S; Guerrero, David; Chorny, Michael