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

The intersection between transgender identity and migrant background: Experienced barriers and facilitators to healthcare in The Netherlands

跨性别身份与移民背景的交集:荷兰医疗保健领域面临的障碍和促进因素

Wijstma, Eline; von Vaupel-Klein, Alex; Welling, Camiel; Jawad, Ali; Smith, Luella W; Bora, Raagini; Sanchez, Sabrina; Illidge, Joël; Davidovich, Udi; Hoornenborg, Elske; Zimmermann, Hanne

Intradialytic Hypotensive Episodes are Only Occasionally Associated With Adverse Symptoms

透析中低血压发作仅偶尔伴有不良症状

Chaara, Sabrine; Rootjes, Paul A; Bergtop, Miquéla I Y; Grooteman, Muriel P C; Liu, Peiyun; Nubé, Menso J; Wijngaarden, Gertrude; de Roij van Zuijdewijn, Camiel L M

Incidence and Prognostic Indicators of Dementia in Patients With Covert Brain Infarction, Transient Ischemic Attack, and Stroke: The Population-Based Rotterdam Study

隐匿性脑梗死、短暂性脑缺血发作和卒中患者痴呆的发生率和预后指标:基于人群的鹿特丹研究

Claus, Jacqueline J; Box, Camiel V J; Vinke, Elisabeth J; Rosbergen, Mathijs T; Berghout, Bernhard P; Vernooij, Meike W; Ikram, M Arfan; Ikram, M Kamran; Wolters, Frank J

Treatment and survival of patients with esophageal and gastric cancer in the Netherlands and Belgium: A population-based comparison

荷兰和比利时食管癌和胃癌患者的治疗和生存情况:一项基于人群的比较研究

Doeve, Benthe H; Kuijper, Steven C; Silversmit, Geert; van Walle, Lien; Nafteux, Philippe; Rosman, Camiel; Vissers, Pauline A J; Jeene, Paul; Beerepoot, Laurens V; Derks, Sarah; Karimi, Amine; Bijlsma, Maarten F; van Laarhoven, Hanneke W M; Verhoeven, Rob H A

ABCA4 Versus PRPH2-Associated Retinopathy: Clinical and Electrophysiological Findings

ABCA4 与 PRPH2 相关性视网膜病变:临床和电生理学发现

Heath Jeffery, Rachael C; Thompson, Jennifer A; Lo, Johnny; Vincent, Andrea L; Patil, Minal; Bianco, Lorenzo; Battaglia Parodi, Maurizio; Ziccardi, Lucia; Dell'Aquila, Carmen; Barbano, Lucilla; Tang, Wei Chao; Chan, Choi Mun; Boon, Camiel J F; Hensman, Jonathan; Chen, Ta-Ching; Lin, Chien-Yu; Chen, Pei-Lung; Vincent, Ajoy; Tumber, Anupreet; Heon, Elise; Grigg, John R; Jamieson, Robyn V; Cornish, Elisa E; Nash, Benjamin M; Chou, Jeremy; Lamey, Tina M; McLenachan, Samuel; Roshandel, Danial; Fujinami, Kaoru; Chelva, Enid; McLaren, Terri L; Chen, Fred K

Retinitis Pigmentosa GTPase regulator-Associated Retinal Degeneration: Integrating Patient-Reported Outcomes, Genetic, and Structural Biomarkers

视网膜色素变性GTP酶调节因子相关视网膜变性:整合患者报告结局、遗传和结构生物标志物

Gouveia, Nuno; Karuntu, Jessica; Almushattat, Hind; Silva, Rufino; Boon, Camiel; Marques, João Pedro

Intradialytic hypotension is severely underreported by intermittent blood pressure readings

间歇性血压测量严重低估了透析中低血压的发生率。

Chaara, Sabrine; Grooteman, Muriel P C; Nubé, Menso J; Bos, Willem Jan W; Rootjes, Paul A; Wijngaarden, Gertrude; de Roij van Zuijdewijn, Camiel L M

Expanding the Clinicoradiologic Phenotype of the CTSA-Associated Small Vessel Disease CARASAL: A Comparison With CADASIL

扩展CTSA相关小血管疾病CARASAL的临床放射学表型:与CADASIL的比较

Cerfontaine, Minne N; Gravesteijn, Gido; Hack, Remco J; Gesierich, Benno; Kruit, Mark C; Van Den Wijngaard, Ido R; Notting, Irene C; Nibbeling, Esther A R; Bugiani, Marianna; van der Knaap, Marjo S; Boon, Camiel J F; Duering, Marco; Rutten, Julie W; Lesnik Oberstein, Saskia A J

Dynamics of Nerve Conduction Studies in Patients With Guillain-Barré Syndrome

格林-巴利综合征患者神经传导研究的动态变化

Arends, Samuel; de Koning, Laura; Drenthen, Judith; Zhu, Mahova; van den Bergh, Peter Y K; Hadden, Robert M; Shahrizaila, Nortina; Reisin, Ricardo C; Kuwabara, Satoshi; Ajroud-Driss, Senda; Antonini, Giovanni; Balducci, Claudia; Barroso, Fabio A; Brannagan, Thomas H; Buermann, Jan; Casasnovas, Carlos; Cavaletti, Guido; Chao, Chi-Chao; Dillmann, Ulrich; Dimachkie, Mazen M; Galassi, Giuliana; Gutiérrez-Gutiérrez, Gerardo; Harbo, Thomas; Hsieh, Sung-Tsang; Islam, Badrul; Katzberg, Hans; Kiers, Lynette; Mataluni, Giorgia; Pardo, Julio; Peréon, Yann; Rajabally, Yusuf A; Stettner, Mark; Verhamme, Camiel; Vytopil, Michal; Waqar, Waheed; Cornblath, David R; Jacobs, Bart C