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,同时解决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

CACNB3 defects are associated with infantile idiopathic nystagmus

CACNB3 缺陷与婴儿特发性眼球震颤有关

Jüschke, Christoph; Linsel, Kira; Owczarek-Lipska, Marta; Brandt, Nicola; Zunken, Sarah; Altmüller, Janine; Preising, Markus N; Kastrati, Dennis; Thiele, Holger; Thomas, Mervyn G; Nürnberg, Peter; Lorenz, Birgit; Kellner, Ulrich; Bräuer, Anja U; Korenke, G Christoph; Gottlob, Irene; Neidhardt, John