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

Tuning Molar Mass of the D18 Polymer via Stille Polymerization: Impact on Morphology and Large-Area Blade-Coated Organic Solar Cells

通过Stille聚合调节D18聚合物的摩尔质量:对形貌和大面积刮涂有机太阳能电池的影响

Cardoso, Renata S; Soares, Igor T; Batalha, João A F L; Mota, Isabela C; Tienne, Lucas G P; Alves, Tamires Y G; Marcate, Letícia A; Martins, Juliana L S; Soares, Gabriela A; Miranda, Bárbara H S; Bagnis, Diego; Chaves, Erica G; Marques, Maria de Fátima V

Strategies for maintaining a positive body image in the face of stigma

面对歧视,如何保持积极的身体形象

Dibb, Bridget; Hepper, Erica G; Stewart, Sarah-Jane; Price, Menna; Wilkinson, Laura L

A Digital Diabetes Prevention Program for Hispanic Adolescents (Fit24+): Protocol for a Feasibility Randomized Controlled Trial

针对西班牙裔青少年的数字化糖尿病预防项目(Fit24+):可行性随机对照试验方案

Soltero, Erica G; Partida, Marbelly; Mihail, Sandra; Villanueva, Lizette; Lopez, Callie; Musaad, Salma M; O'Connor, Teresia M; Redondo, Maria J; Buman, Matthew; Thompson, Debbe

Community Participatory Co-Design and Development of a Digital Diabetes Prevention Education Program for Hispanic Families With Obesity: Mixed Methods Study

针对肥胖的西班牙裔家庭,开展社区参与式共同设计与开发数字化糖尿病预防教育项目:混合方法研究

Mihail, Sandra; Partida, Marbelly; Villanueva, Lizette; Thompson, Debbe; O'Connor, Teresia M; Musaad, Salma M; Redondo, Maria J; Soltero, Erica G

CRISPR-mediated conditional mutagenesis of Smad1/5/8 reveals BMP/GDF signaling restricts postnatal bone overgrowth.

利用 CRISPR 介导的 Smad1/5/8 条件诱变揭示 BMP/GDF 信号限制出生后骨骼过度生长。

Levina Rimma, Weitzel Alexander J, Liu Alexander Y, Low Benjamin E, Ford Pierce W, Halaby Hayley, Grunwald Hannah A, Gacasan Erica G, Moharrer Yasaman, Sah Robert L, Bennett Eric J, Boerckel Joel D, Wiles Michael V, Cooper Kimberly L

Monoallelic expression can govern penetrance of inborn errors of immunity

单等位基因表达可以控制先天性免疫缺陷的穿透率

Stewart, O'Jay; Gruber, Conor; Randolph, Haley E; Patel, Roosheel; Ramba, Meredith; Calzoni, Enrica; Huang, Lei Haley; Levy, Jay; Buta, Sofija; Lee, Angelica; Sazeides, Christos; Prue, Zoe; Hoytema van Konijnenburg, David P; Chinn, Ivan K; Pedroza, Luis A; Lupski, James R; Schmitt, Erica G; Cooper, Megan A; Puel, Anne; Peng, Xiao; Boisson-Dupuis, Stéphanie; Bustamante, Jacinta; Okada, Satoshi; Martin-Fernandez, Marta; Orange, Jordan S; Casanova, Jean-Laurent; Milner, Joshua D; Bogunovic, Dusan

Cellular and genetic mechanisms that shape the development and evolution of tail vertebral proportion in mice and jerboas

影响小鼠和跳鼠尾椎比例发育和演化的细胞和遗传机制

Weber, Ceri J; Weitzel, Alexander J; Liu, Alexander Y; Gacasan, Erica G; Chapman, Susan C; Sah, Robert L; Cooper, Kimberly L

Disseminated Histoplasmosis in Very Early Diagnosed De Novo STAT3-HIES

早期诊断的播散性组织胞浆菌病伴发新生STAT3-HIES

Sanosyan, Armen; Hazan, Ran; Freeman, Alexandra F; Schmitt, Erica G; Horner, Caroline C

Elevated Plasma Complement Factors in CRB1-Associated Inherited Retinal Dystrophies

CRB1 相关遗传性视网膜营养不良症患者血浆补体因子升高

Lude Moekotte, Joke H de Boer, Sanne Hiddingh, Aafke de Ligt, Xuan-Thanh-An Nguyen, Carel B Hoyng, Chris F Inglehearn, Martin McKibbin, Tina M Lamey, Jennifer A Thompson, Fred K Chen, Terri L McLaren, Alaa AlTalbishi, Daan M Panneman, Erica G M Boonen, Sandro Banfi, Béatrice Bocquet, Isabelle Meunie