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

A17 SYSTEMS-LEVEL PATHWAY MAPPING REVEALS GUT–BRAIN AND IMMUNE SIGNATURES IN FLARES OF IBS

A17 系统级通路图谱揭示肠易激综合征发作中的肠-脑和免疫特征

Liu, Yuzhou; Wang, Le; Lao, Jie; Zhao, Xin; Mohan, V; Pinto-Sanchez, M; Nardelli, A; Magee, M; Borojevic, R; Kroezen, Z; Shanmuganathan, M; De Palma, G; Moayyedi, P; Britz Mckibbin, P; Collins, S; Bercik, P

In Situ Analysis of Historical Preservation Fluids in Sealed Containers with Spatially Offset Raman Spectroscopy

利用空间偏移拉曼光谱技术对密封容器中的历史文物保护液进行原位分析

Blanco, Ana; Montgomery, Wren; Walker, Sam; McKibbin, Chelsea; Stokes, Robert; Matousek, Pavel; Mosca, Sara

Dietary Vitamin B-9 and B-12 Deficiencies Alter Gut Homeostasis in Sprague-Dawley Rats

膳食中维生素B9和B12缺乏会改变Sprague-Dawley大鼠的肠道稳态

Hossain, Khandkar Shaharina; Rasouli, Ava; Amarasena, Sathya; Kroezen, Zachary; Kurysko, Natasia; Shanmuganathan, Meera; Brunton, Janet A; Lamers, Yvonne; Tahlan, Kapil; Britz Mckibbin, Philip; Mayengbam, Shyamchand

Study protocol and pilot study results for a clinical intervention trial of PKU carriers and non-carriers: the Phe for Me trial

苯丙酮尿症携带者和非携带者临床干预试验的研究方案和试点研究结果:Phe for Me试验

Khan, Sophia M; Fennell, Madison L; Fallah, Mazyar; Jordan, Heather; Kroezen, Zachary; Britz-McKibbin, Philip; Millar, Philip J; Heister, Robyn R; Vohl, Marie-Claude; Keathley, Justine R

Factors associated with high vs. low implementation of Medicare's chronic care management programme in Wyoming primary care practices

怀俄明州初级保健机构中医疗保险慢性病管理计划实施程度高低的相关因素

Punke, Elizabeth; Wall, Lucas A; McKibbin, Christine L; Carrico, Catherine P; Woods, Tonja; Dabrowski, Barbara S; Teply, Abby L

A Software Tool for Rapid and Automated Preprocessing of Large-Scale Serum Metabolomic Data by Multisegment Injection-Capillary Electrophoresis-Mass Spectrometry

一种用于快速、自动化预处理大规模血清代谢组学数据的多段进样-毛细管电泳-质谱法软件工具

Helmeczi, Erick; Kroezen, Zachary; Shanmuganathan, Meera; Stanciu, Ana Ruxandra; Martinez, Vanessa; Kurysko, Natasia; Normando, Paula; Castro, Inês Rugani Ribeiro de; Schincaglia, Raquel Machado; Kac, Gilberto; Britz-McKibbin, Philip

Serum metabolome indicators of early childhood development in the Brazilian National Survey on Child Nutrition (ENANI-2019)

巴西全国儿童营养调查(ENANI-2019)中儿童早期发育的血清代谢组指标

Padilha, Marina; Keller, Victor Nahuel; Normando, Paula; Schincaglia, Raquel M; Freitas-Costa, Nathalia C; Freire, Samary S R; Delpino, Felipe M; de Castro, Inês R R; Lacerda, Elisa M A; Farias, Dayana R; Kroezen, Zachary; Shanmuganathan, Meera; Britz-Mckibbin, Philip; Kac, Gilberto

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

Expansion of the ABCA4-Associated Retinopathy Spectrum: Severe Variants Can be Associated With Early-Onset Severe Retinal Dystrophy

ABCA4相关视网膜病变谱的扩展:严重变异体可能与早发性严重视网膜营养不良相关

Panneman, Daan M; Hitti-Malin, Rebekkah J; McKibbin, Martin; de Bruijn, Suzanne E; Boonen, Erica G M; Vincent, Andrea L; Vargas, Glenda; Corominas, Jordi; Astuti, Galuh; Gilissen, Christian; De Baere, Elfride; Inglehearn, Chris F; Roosing, Susanne; Koenekoop, Robert K; Cremers, Frans P M