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

Genetic Correlates of Phenotypic Variability in c.5882G>A p.(Gly1961Glu)-Associated Stargardt Disease

c.5882G>A p.(Gly1961Glu)相关斯塔加特病表型变异的遗传相关性

Pas, Jeroen A A H; Künzel, Sandrine H; Ansari, Georg; Pfau, Kristina; Chang, Petrus; Herrmann, Philipp; Holz, Frank G; Hoyng, Carel B; Pfau, Maximilian

Introducing Christine A. Curcio and Cynthia Owsley, the 2025 Recipients of the Proctor Medal

隆重介绍 2025 年普罗克特奖章获得者:克里斯汀·A·库尔西奥和辛西娅·奥斯利

Pfau, Maximilian

PancreaSeq Genomic Classifier (PancreaSeq GC) Improves Pancreatic Cyst Classification and Detection of Advanced Neoplasia: A Multi-institutional Validation Study

PancreaSeq基因组分类器(PancreaSeq GC)可提高胰腺囊肿分类和晚期肿瘤检出率:一项多中心验证研究

Singhi, Aatur D; Wald, Abigail I; Smith, Katelyn; Wolkenstein, Lynn; Bubar, Robert D; Diaz-Aragon, Ricardo; Grupillo, Maria; Guckin, Danielle; Lai, Yi-Tak; Brand, Randall E; McGrath, Kevin; Park, Walter G; Pfau, Patrick R; Polanco, Patricio M; Kubiliun, Nisa; DeWitt, John; Easler, Jeffrey J; Dam, Aamir; Mok, Shaffer R; Wallace, Michael B; Boone, Brian A; Marsh, Wallis; Thakkar, Shyam; Fairley, Kimberly J; Afghani, Elham; Bhat, Yasser; Ramrakhiani, Sanjay; Nasr, John; Thiruvengadam, Nikhil R; Khalid, Asif; Fasanella, Kenneth; Chennat, Jennifer; Das, Rohit; Singh, Harkirat; Slivka, Adam; Gabbert, Charles; Sawas, Tarek; Tielleman, Thomas; Vanderveldt, Hendrikus Dutch; Tavakkoli, Anna; Smith, Lynette M; Singhi, Anju H; Singhi, Sara A; Romutis, Stephanie; Mahmood, Sultan; Hosmer, Amy E; McNabb-Baltar, Julia; Lennon, Anne Marie; Hruban, Ralph H; Shaker, Nuha; Paniccia, Alessandro; Zureikat, Amer; Lee, Kenneth K; Ongchin, Melanie; Zeh, Herbert; Minter, Rebecca; Schmidt, C Max; He, Jin; Nikiforova, Marina N

Functional Integration of Different-Sex Gonad Transplants Into the Adult Mouse Hypothalamic Pituitary Gonadal Axis.

将不同性别的性腺移植到成年小鼠下丘脑-垂体-性腺轴的功能整合。

Pfau Daniel R, Rionda Monica A, Cho Evelyn, Clark Jamison G, Kruger Robin E, Chan-Sui Ruth K, Padmanabhan Vasantha, Moravek Molly B, Shikanov Ariella

Comparison of muscular activity and metabolic response between a novel handle-based and a push-rim wheelchair in a simulated daily mobility circuit

在模拟日常出行回路中,比较新型把手式轮椅和推圈式轮椅的肌肉活动和代谢反应

Aronis, Georgios; Pfau, Sebastian; Abass, Marvin; Angeli, Thomas; Gföhler, Margit

Searching for type 2 diabetes prevention interventions in public health and community settings: protocol for a scoping review

在公共卫生和社区环境中寻找2型糖尿病预防干预措施:范围界定综述方案

Michels, Dominique; Walter, Carolin; Grathwohl-Karl, Alana; Pfau, Johanna; Haumann, Hannah; Joos, Stefanie; Fröhlich, Daniela

Communicative Adaptations After Laryngectomy: Syntactic Complexity and Gesture Use

喉切除术后的沟通适应:句法复杂性和手势使用

Neijman, Marise; Rooy, Bertus van; Pfau, Roland; van Son, Rob J J H; van den Brekel, Michiel W M

Controlled Formation of Skyrmion Bags

可控形成天晶袋

Kern, Lisa-Marie; Kuchkin, Vladyslav M; Deinhart, Victor; Klose, Christopher; Sidiropoulos, Themistoklis; Auer, Maike; Gaebel, Simon; Gerlinger, Kathinka; Battistelli, Riccardo; Wittrock, Steffen; Karaman, Tamer; Schneider, Michael; Günther, Christian M; Engel, Dieter; Will, Ingo; Wintz, Sebastian; Weigand, Markus; Büttner, Felix; Höflich, Katja; Eisebitt, Stefan; Pfau, Bastian

Next-generation phenotyping of inherited retinal diseases from multimodal imaging with Eye2Gene

利用 Eye2Gene 进行多模态成像,实现遗传性视网膜疾病的下一代表型分析

Pontikos, Nikolas; Woof, William A; Lin, Siying; Ghoshal, Biraja; Mendes, Bernardo S; Veturi, Advaith; Nguyen, Quang; Javanmardi, Behnam; Georgiou, Michalis; Hustinx, Alexander; Ibarra-Arellano, Miguel A; Moghul, Ismail; Liu, Yichen; Pfau, Kristina; Pfau, Maximilian; Shah, Mital; Yu, Jing; Al-Khuzaei, Saoud; Wagner, Siegfried K; Daich Varela, Malena; Cabral de Guimarães, Thales Antonio; Sen, Sagnik; Naik, Gunjan; Sumodhee, Dayyanah; Fu, Dun Jack; Kabiri, Nathaniel; Furman, Jennifer; Liefers, Bart; Lee, Aaron Y; De Silva, Samantha R; Marques, Caio; Motta, Fabiana; Fujinami-Yokokawa, Yu; Hardcastle, Alison J; Arno, Gavin; Lorenz, Birgit; Herrmann, Philipp; Fujinami, Kaoru; Sallum, Juliana; Madhusudhan, Savita; Downes, Susan M; Holz, Frank G; Balaskas, Konstantinos; Webster, Andrew R; Mahroo, Omar A; Krawitz, Peter M; Michaelides, Michel