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

Early-Onset Retinopathy in Patients With Variants in SLC6A6 Leading to Impaired Taurine Transport

SLC6A6基因变异导致牛磺酸转运受损的患者会出现早发性视网膜病变

Ullah, Mukhtar; Rehman, Atta Ur; Shetty, Madhur; Allen, Michael D; Ullah, Ehsan; Signorini, Sabrina G; des Roziers, Cyril Burin; Grijalva, Rosalie M; Rashid, Abdur; Munir, Asad; Porretta, Alessandra Pia; Valente, Enza Maria; Agather, Aime R; Dimopoulos, Ioannis; Hufnagel, Robert B; Malandain, Edouard; Coursimault, Juliette; Ansar, Muhammad; Antonarakis, Stylianos E; Superti-Furga, Andrea; Jan, Sanaullah; Brooks, Brian P; Calzetti, Giacomo; Guan, Bin; Quinodoz, Mathieu; Henry, L Keith; Rivolta, Carlo

Nonfacial Use of Injectable Poly-L-lactic Acid: Safety Data From a Multicenter Observational Study in the United States

注射用聚左旋乳酸在非面部应用:一项美国多中心观察性研究的安全性数据

Durairaj, Kalpna Kay; Vafa, Ali; Aguilera, Shino Bay; Fabi, Sabrina G; Sadick, Neil; Palm, Melanie D; Levine, Jennifer; Shridharani, Sachin M; Mayoral, Flor; Bråsäter, Daniel; Prygova, Inna; Wolgast, Charlotta; Weinberg, Felipe

Comprehensive mutational analysis of the sequence-function relationship within a viral internal ribosome entry site.

对病毒内部核糖体进入位点的序列-功能关系进行全面的突变分析

Grunseich Sabrina G, Strobel Scott A

Triple burden of malnutrition in children and mothers from Ceará, brazil: a cross sectional study

巴西塞阿拉州儿童和母亲营养不良的三重负担:一项横断面研究

Rocha, Sabrina G M O; Correia, Luciano L; Machado, Márcia M T; Leite, Álvaro J M; E Silva, Anamaria C; Campos, Jocileide S; Giacomini, Sâmia G M O; Sudfeld, Christopher R; Rocha, Hermano A L

Injectable Poly-L-Lactic Acid for Body Aesthetic Treatments: An International Consensus on Evidence Assessment and Practical Recommendations

注射用聚左旋乳酸用于身体美容治疗:证据评估和实用建议的国际共识

Haddad, Alessandra; Avelar, Luiz; Fabi, Sabrina G; Sarubi, Juliana; Somenek, Michael; Coimbra, Daniel Dal'Asta; Palm, Melanie; Durairaj, Kalpna K; Somji, Munir; Vasconcelos-Berg, Roberta; Hanseok, Lim; Morlet-Brown, Kate; Huang, Jeff; Fitzgerald, Rebecca; Hexsel, Doris; Mao, Cheri; Weinberg, Felipe; Prygova, Inna; Bråsäter, Daniel

Skinspan: A Holistic Roadmap for Extending Skin Longevity With Evidence-Based Interventions

Skinspan:以循证干预措施延长皮肤寿命的整体路线图

Kream, Elizabeth; Fabi, Sabrina G; Boen, Monica

Midface Projection Using Biostimulatory Poly- l -Lactic Acid Injectable Implant: A Subgroup Analysis of the Cheek Wrinkle Trial

利用生物刺激性聚左旋乳酸注射植入物改善中面部轮廓:面颊皱纹试验的亚组分析

Fabi, Sabrina G; Le, Jennifer H T D; Prygova, Inna; Bråsäter, Daniel

Galectin-7 reprograms skin carcinogenesis by fostering innate immune evasive programs

半乳糖凝集素-7通过促进先天免疫逃逸程序来重编程皮肤癌的发生。

Nicolás A Pinto ,Martín C Abba # ,Lorena Laporte # ,Juan M Pérez Sáez ,Ada G Blidner ,Nicolás I Torres ,Rosa M Morales ,Sabrina G Gatto ,Camila A Bach ,Florencia Veigas ,Hernán J García Rivello ,Peng Song ,Jane H Frederiksen ,Lene Juel Rasmussen ,Francoise Poirier ,Diego O Croci ,Victoria Sundblad ,Gabriel A Rabinovich ,Juan P Cerliani

Nicotine-Mediated Rescue of α-Synuclein Toxicity Requires Synaptic Vesicle Glycoprotein 2 in Drosophila

尼古丁介导的果蝇 α-突触核蛋白毒性挽救需要突触囊泡糖蛋白 2

Abby L Olsen, Sabrina G Clemens, Mel B Feany