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

Low population penetrance of variants associated with inherited retinal degenerations

与遗传性视网膜变性相关的变异在人群中的外显率较低

Zaslavsky, Kirill; Chen, Liyin; Park, Chloe; Place, Emily M; Navarro-Gomez, Daniel; Zekavat, Seyedeh M; Barile, Christopher F; Bujakowska, Kinga M; Rossin, Elizabeth J; Pierce, Eric A

Long-term tamoxifen impacts the ovary but not preimplantation embryo development†

长期服用他莫昔芬会影响卵巢,但不会影响胚胎着床前发育†

Kutlutürk, Gülbahar Zehra; Place, Trenton L; Awadalla, Michael S; Danis, Rachel B; Ingles, Sue Ann; Asante, Isaac; Li, Rita; Louie, Stan; Stanczyk, Frank Z; McGinnis, Lynda K

A brief universal parenting program for recently settled immigrants in Sweden: a feasibility study

针对瑞典新近定居移民的简短普适育儿计划:可行性研究

Västhagen, Maja; Özdemir, Metin; Kimber, Birgitta; Ghaderi, Ata; Place, Vanessa; Enebrink, Pia

Evaluation of cattle sub-species and growth-promoting technology on growth performance, carcass characteristics, and enteric gas flux of steers finished in winter feedlot conditions

评估牛亚种和促生长技术对冬季育肥场育肥牛生长性能、胴体特性和肠道气体通量的影响

Schilling-Hazlett, Ashley K; Stackhouse-Lawson, Kimberly R; Bryant, Tony C; Place, Sara E; Ritten, John P; Vargas, Juan J; Reis, Irene A; Martins, Edilane C; Swenson, Maya A; Burke, Erin N; Campion, Rhyse K; Velasquez, Cesar; Shadbolt, Anna M; Carvalho, Pedro H V

Recent advances in site-specific modifications of peptides and proteins

肽和蛋白质位点特异性修饰的最新进展

Baumann, Gerd; Place, Robert F; Földes-Papp, Zeno; Duan, Xin-Rong; Zhang, Meng-Qian; Feng, Geng-Hui; Li, Yan-Mei

"If you show them love from an early age, they become healthier." How do Hispanics in northern Indiana think about infant mortality and perinatal health?

“如果从小就给予他们爱,他们会更健康。”印第安纳州北部的西班牙裔居民如何看待婴儿死亡率和围产期健康?

Place, Jean Marie Sims; Quintero, Liliana; Renbarger, Kalyn; Roach, Kalayz'ana; Tagler, Grace

Phenotyping the Structure and Function of the Heart of Elite Sailors: Implications for Pre-Participation Cardiac Screening

对精英水手心脏结构和功能进行表型分析:对赛前心脏筛查的启示

Maxwell, Joseph D; Howard, Luca J; White, Ian; Place, Florence; Aggokabo, Obipiseibima; Robinson, Shaun; Galloway, Camille S L; Shardey, Jacob K K; Verrinder, Christian; George, Keith P; Cooper, Robert; Oxborough, David

Calibrated Integrated Backscatter Is Associated With Increased Left Ventricular Concentricity and Left Atrial Stiffness in Resistance Trained Individuals Using Anabolic-Androgenic Steroids

校准后的积分反向散射与使用合成代谢雄激素类固醇的抗阻训练者的左心室向心性增加和左心房僵硬度增加相关

Place, Florence; Hamilton, Chloe; Carpenter, Harry; Howard, Luca J; Morrison, Barbara N; Chester, Neil; Cooper, Robert; Stansfield, Ben N; George, Keith P; Angell, Peter; Oxborough, David

Women's Experiences with a Perinatal Peer Support Specialist Program

女性参与围产期同伴支持专家项目的经历

Renbarger, Kalyn M; Place, Jean Marie; Hess, Corie; Burkhart, Lina