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

De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosa

U4 和 U6 snRNA 基因的新生突变和遗传性显性突变会导致视网膜色素变性。

Quinodoz, Mathieu; Rodenburg, Kim; Cvackova, Zuzana; Kaminska, Karolina; de Bruijn, Suzanne E; Iglesias-Romero, Ana Belén; Boonen, Erica G M; Ullah, Mukhtar; Zomer, Nick; Folcher, Marc; Bijon, Jacques; Holtes, Lara K; Tsang, Stephen H; Corradi, Zelia; Freund, K Bailey; Shliaga, Stefanida; Panneman, Daan M; Hitti-Malin, Rebekkah J; Ali, Manir; AlTalbishi, Ala'a; Andréasson, Sten; Ansari, Georg; Arno, Gavin; Astuti, Galuh D N; Ayuso, Carmen; Ayyagari, Radha; Banfi, Sandro; Banin, Eyal; Barakat, Tahsin Stefan; Barboni, Mirella T S; Bauwens, Miriam; Ben-Yosef, Tamar; Bernard, Virginie; Birch, David G; Biswas, Pooja; Blanco-Kelly, Fiona; Bocquet, Beatrice; Boon, Camiel J F; Branham, Kari; Bremond-Gignac, Dominique; Britten-Jones, Alexis Ceecee; Bujakowska, Kinga M; Burin des Roziers, Cyril; Cadena, Elizabeth L; Calzetti, Giacomo; Cancellieri, Francesca; Cattaneo, Luca; Chadderton, Naomi; Charbel Issa, Peter; Coutinho-Santos, Luísa; Daiger, Stephen P; De Baere, Elfride; De Bruyne, Marieke; de la Cerda, Berta; De Roach, John N; De Zaeytijd, Julie; Derks, Ronny; Dhaenens, Claire-Marie; Dudakova, Lubica; Duncan, Jacque L; Farrar, G Jane; Feltgen, Nicolas; Fenner, Beau J; Fernández-Caballero, Lidia; Ferraz Sallum, Juliana M; Gana, Simone; Garanto, Alejandro; Gardner, Jessica C; Gilissen, Christian; Gonzàlez-Duarte, Roser; Goto, Kensuke; Griffiths-Jones, Sam; Haack, Tobias B; Haer-Wigman, Lonneke; Hardcastle, Alison J; Hayashi, Takaaki; Héon, Elise; Hoefsloot, Lies H; Hoischen, Alexander; Holtan, Josephine P; Hoyng, Carel B; Ibanez, Manuel Benjamin B 4th; Inglehearn, Chris F; Iwata, Takeshi; Jensson, Brynjar O; Jones, Kaylie; Kalatzis, Vasiliki; Kamakari, Smaragda; Karali, Marianthi; Kellner, Ulrich; Klaver, Caroline C W; Knézy, Krisztina; Koenekoop, Robert K; Kohl, Susanne; Kominami, Taro; Kühlewein, Laura; Lamey, Tina M; Leibu, Rina; Leroy, Bart P; Liskova, Petra; Lopez, Irma; López-Rodríguez, Victor R de J; Mahieu, Quinten; Mahroo, Omar A; Manes, Gaël; Mansard, Luke; Martín-Gutiérrez, M Pilar; Martins, Nelson; Mauring, Laura; McKibbin, Martin; McLaren, Terri L; Meunier, Isabelle; Michaelides, Michel; Millán, José M; Mizobuchi, Kei; Mukherjee, Rajarshi; Nagy, Zoltán Zsolt; Neveling, Kornelia; Ołdak, Monika; Oorsprong, Michiel; Pan, Yang; Papachristou, Anastasia; Percesepe, Antonio; Pfau, Maximilian; Pierce, Eric A; Place, Emily; Ramesar, Raj; Ramond, Francis; Rasquin, Florence Andrée; Rice, Gillian I; Roberts, Lisa; Rodríguez-Hidalgo, María; Ruiz-Ederra, Javier; Sabir, Ataf H; Sajiki, Ai Fujita; Sánchez-Barbero, Ana Isabel; Sarma, Asodu Sandeep; Sangermano, Riccardo; Santos, Cristina M; Scarpato, Margherita; Scholl, Hendrik P N; Sharon, Dror; Signorini, Sabrina G; Simonelli, Francesca; Sousa, Ana Berta; Stefaniotou, Maria; Stefansson, Kari; Stingl, Katarina; Suga, Akiko; Sulem, Patrick; Sullivan, Lori S; Szabó, Viktória; Szaflik, Jacek P; Taurina, Gita; Thiadens, Alberta A H J; Toomes, Carmel; Tran, Viet H; Tsilimbaris, Miltiadis K; Tsoka, Pavlina; Vaclavik, Veronika; Vajter, Marie; Valeina, Sandra; Valente, Enza Maria; Valentine, Casey; Valero, Rebeca; Valleix, Sophie; van Aerschot, Joseph; van den Born, L Ingeborgh; Van Heetvelde, Mattias; Verhoeven, Virginie J M; Vincent, Andrea L; Webster, Andrew R; Whelan, Laura; Wissinger, Bernd; Yioti, Georgia G; Yoshitake, Kazutoshi; Zenteno, Juan C; Zeuli, Roberta; Zuleger, Theresia; Landau, Chaim; Jacob, Allan I; Lin, Siying; Cremers, Frans P M; Lee, Winston; Ellingford, Jamie M; Stanek, David; Roosing, Susanne; Rivolta, Carlo

Programmable Bell state generation in an integrated thin film lithium niobate circuit

集成薄膜铌酸锂电路中的可编程贝尔态生成

Maeder, Andreas; Chapman, Robert J; Sabatti, Alessandra; Finco, Giovanni; Kellner, Jost; Grange, Rachel

Thin film lithium niobate on sapphire for integrated mid-infrared modulator

用于集成中红外调制器的蓝宝石衬底上铌酸锂薄膜

Didier, Pierre; Jain, Prakhar; Bertrand, Mathieu; Kellner, Jost; Pitz, Oliver; Dai, Zhecheng; Kuttner, Tristan; Beck, Mattias; Chen, Baile; Faist, Jérôme; Grange, Rachel

Loss-of-function variants in the CAPN1 activator CD99L2 cause X-linked spastic ataxia

CAPN1激活因子CD99L2的功能缺失变异会导致X连锁痉挛性共济失调。

Menden, Benita; Incebacak Eltemur, Rana D; Demidov, German; Sturm, Marc; Park, Joohyun; Huridou, Chrisovalantou; Fath, Florian; Nümann, Astrid; Baumann, Alexander; Diets, Illja J; Dufke, Claudia; Regensburger, Martin; Rönnefarth, Maria; Wilke, Vera; van Os, Nienke; Vielhaber, Stefan; Rattay, Tim W; Kohl, Zacharias; Peralta, Susana; Pereira Sena, Priscila; Kellner, Melanie; Weissert, Nadine; Traschütz, Andreas; Zeltner, Lena; Boelmans, Kai; Deininger, Natalie; Schütz, Leon; Gross, Caspar; Hinojosa Amaya, Ana Beatriz; Raupach, Katrin; Hengel, Holger; Harmuth, Florian; Admard, Jakob; Bader, Ingrid; Baumann, Sarah; Bender, Friedemann; Bevot, Andrea; Bischoff, Almut; Boschann, Felix; Buchert, Rebecca; Buchzik, Daniel; Casadei, Nicolas; Catarino, Claudia B; Cordts, Isabell; Cremer, Kirsten; Doebler-Neumann, Marion; Ehmke, Nadja; Elbracht, Miriam; Falb, Ruth J; Feindt, Thomas; Fleszar, Zofia; Gerstner, Lea; Gläser, Dieter; Grasshoff, Ute; Grosch, Sarah; Grundmann, Kathrin; Gutschalk, Alexander; Haaga, Manja; Hayer, Stefanie; Hehr, Ute; Hellenbroich, Yorck; Henn, Wolfram; Herr, Barbara; Herzog, Rebecca; Horber, Veronka; Deppe, Jonas; Kaiser, Nadja; Kehrer, Christiane; Kehrer, Martin; Kern, Jan; Keßler, Christoph; Khuller, Katharina; Klinkhammer, Hannah; Kotzaeridou, Urania; Krawitz, Peter; Kreiss, Martina; Küpper, Hanna; Kuster, Alice; Laugwitz, Lucia; Lesemann, Anne; Lichey, Nadine; Linden, Tobias; Macek, Boris; Magg, Janine; Mangold, Elisabeth; Manka, Eva; Marquardt, Iris; Mehnert, Karl; Mengel, David; Morlot, Susanne; Oehl-Jaschkowitz, Barbara; Pauly, Martje G; Philipp, Melanie; Radelfahr, Florentine; Rautenberg, Maren; Riess, Angelika; Saft, Carsten; Schlotter-Weigel, Beate; Schmidt, Axel; Schwaibold, Eva M C; Spahlinger, Veronika; Spranger, Stephanie; Steiner, Katharina Marie; Stendel, Claudia; Thieme, Andreas; Tzschach, Andreas; Velic, Ana; Wiethoff, Sarah; Wilke, Carlo; Züchner, Stephan; Zittel, Simone; Husain, Ralf A; Deschauer, Marcus; Distelmaier, Felix; Dufke, Andreas; Graessner, Holm; Hemmer, Bernhard; Jacobi, Heike; Klockgether, Thomas; Klopstock, Thomas; Kobeleva, Xenia; Korenke, Georg-Christoph; Kuechler, Alma; Kuhlenbäumer, Gregor; Kurth, Ingo; Nguyen, Huu Phuc; Wunderlich, Gilbert; Zeuner, Kirsten E; Klebe, Stephan; Auer-Grumbach, Michaela; Butryn, Michaela; Winkler, Jürgen; Timmann, Dagmar; Synofzik, Matthis; van de Warrenburg, Bart; Schüle, Rebecca; Schöls, Ludger; Ossowski, Stephan; Riess, Olaf; Weber, Jonasz J; Haack, Tobias B

Hospital admissions for maltreatment among children younger than 2 years during the COVID-19 pandemic in Canada

加拿大新冠疫情期间2岁以下儿童因虐待入院的人数

Carwana, Matthew; Roumeliotis, Nadia; Dean, Paige; Braschel, Melissa; Trudeau-Ferrin, Ofelie; Udall, Britt; Benigeri, Mike; Diop, Mamadou; Kang, Kris; Jain, Nita; Forgeot-d'Arc, Baudouin; Ali, Samina; Banerjee, Ananya; Drouin, Olivier; Fontela, Patricia; Gantt, Soren; Gill, Peter; Guttmann, Astrid; Li, Patricia; Mahant, Sanjay; Papenburg, Jesse; Sadarangani, Manish; Wahi, Gita; Zinszer, Kate; Kellner, James D; Côté, Sylvana M; Quach, Caroline; Doan, Quynh

A live tumor fragment platform to assess immunotherapy response in core needle biopsies while addressing challenges of tumor heterogeneity

一种用于评估核心针穿刺活检中免疫疗法反应的活体肿瘤碎片平台,同时应对肿瘤异质性带来的挑战

Ramasubramanian, T S; Adstamongkonkul, Pichet; Scribano, Christina M; Johnson, Christin; Caenepeel, Sean; Hrycyniak, Laura C F; Vedder, Lindsey C; Dana, Nicholas; Baltes, Christian; Browning, Victoria; Chen, Yuan-I; Dietz, Thomas; Flietner, Evan; Kaplewski, Nicholas; Kellner, Anna; Korrer, Michael; Liu, Chao; Marhefke, Nathan; McDonnell, Payton; Nasreen, Amreen; Pope, Victoria; Prasad, Abhijeet; Richardson, Jordyn; Schneider, Sidney; Schultz, Mikaela M; Sood, Chetan; Sunil, Aishwarya; Euw, Erika von; Wait, Eric; Wargowski, Ellen E; Advani, Pooja; Broome, Barbara; Bruckbauer, Antje; Godwin, Andrew; Kokabi, Nima; Lou, Yanyan; Martin, Robert C G 2nd; Robaina, Mercedes; Toia, Giuseppe; Routh, Joshua; Friedl, Andreas; Eliceiri, Kevin; Szulczewski, Michael; Johnson, Scott; Oliner, Jon; Galon, Jérôme; Capitini, Christian; Mukhopadhyay, Debabrata; Taube, Janis; Braun, David; Gierman, Hinco J

Low interstitial fluid in patients with spontaneous intracranial hypotension

自发性颅内低压患者的组织间液量低

Zander, Charlotte; Rau, Alexander; Lützen, Niklas; Wolf, Katharina; Volz, Florian; El Rahal, Amir; Krismer, Laura; Mast, Hansjörg; Reisert, Marco; Kellner, Elias; Beck, Jürgen; Urbach, Horst; Demerath, Theo

A universal machine learning model for the electronic density of states

一种用于电子态密度计算的通用机器学习模型

How, Wei Bin; Febrer, Pol; Chong, Sanggyu; Mazitov, Arslan; Bigi, Filippo; Kellner, Matthias; Pozdnyakov, Sergey; Ceriotti, Michele

Conservation of Neuron-Astrocyte Correlated Activity in Developing Sensory Pathways

发育中的感觉通路中神经元-星形胶质细胞相关活动的保守性

Kellner, Vered; Parker, Patrick; Heo, Dongeun; Mi, Xuelong; Coen, Mikhail; Yu, Guoqiang; Saher, Gesine; Goff, Loyal A; Bergles, Dwight E

Cell-Mediated Mechanical Stability Enhancement of Biomimetic Collagen-Alginate Hydrogels: A Mechanistic Study on the Two-Dimensional Extracellular Matrix–Cell Interaction

细胞介导的仿生胶原-海藻酸盐水凝胶力学稳定性增强:二维细胞外基质-细胞相互作用的机制研究

Gao, Tianhui; Li, Xiongjie; Zhou, You; Shang, Jiazhou; Ma, Yingkuo; Guo, Jing; Fu, Fangfang; Wang, Guibin; Ramírez Marrero, Isaac A; Ghosh, Ria; Coughlin, Louisa M; Wong, Wen-Wei; Ng, Emily; Kellner, Elijah; Redder, Madyson; Kaiser, Nadine; von Vacano, Bernhard; Konradi, Rupert; Coughlin, E Bryan; Perry, Sarah L; Feng, Shuhan; Hietala, Sami; Valle-Delgado, Juan José; Vehkamäki, Marko; Correia, Alexandra; Wang, Shiqi