日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes

非编码RNA基因RNU4-2的双等位基因变异会导致一种隐性遗传的神经发育综合征,并伴有明显的白质改变。

Rius, Rocio; Blakes, Alexander J M; Chen, Yuyang; De Jonghe, Joachim; Lecoquierre, François; Dawes, Ruebena; Cogne, Benjamin; Kim, Hyung Chul; Alvi, Javeria R; Amblard, Florence; Ansari, Morad; Arlt, Annabelle; Austin-Tse, Christina; Baer, Sarah; Balasubramanian, Meena; Balton, Elsa V; Barcia, Giulia; Beleza-Meireles, Ana; Bernstein, Jonathan A; Beygo, Jasmin; Blanc, Pierre; Bramswig, Nuria C; Braun, Frederik; Buchzik, Daniel; Calame, Daniel G; Campbell, Jamie; Coutton, Charles; Cunningham, Chloe A; Dargie, Nitsuh; Depienne, Christel; Dipple, Katrina M; Dieux, Anne; Dixit, Abhijit; Dreyer, Lauren; Du, Haowei; El Chehadeh, Salima; Field, Michael; Ewans, Lisa J; Geiger, Vanessa; Gibbs, Richard A; Glass, Ian; Grunewald, Olivier; Gueguen, Paul; Haack, Tobias B; Hadj Abdallah, Hamza; Harbuz, Radu; Helbig, Ingo; Horvath, Judit; Hustinx, Alexander; Isidor, Bertrand; Jacquemont, Marie-Line; Jamie, Fraser; Jeanne, Médéric; Kessler, Riley; Klinkhammer, Hannah; Korenke, G Christoph; Kotzaeridou, Urania; Krawitz, Peter; Laurie, Steven; Leventer, Richard J; Levy, Rebecca J; Lupski, James R; Marijon, Pierre; McGinnis, Kaitlin E; Mendez, Rodrigo; Messaoud, Olfa; Nava, Caroline; Nizard, Mevyn; O'Donnell-Luria, Anne; O'Leary, Melanie C; Olivieri, Simone; Parida, Amitav; Pehlivan, Davut; Prentice, Anna Jenne; Posey, Jennifer E; Reuter, Chloe M; Satre, Véronique; Schluth-Bolard, Caroline; Smol, Thomas; Sultan, Tipu; Taylor, John; Thauvin-Robinetvin, Christel; Thevenon, Julien; Uebergang, Eloise; Ueberberg, Sandra; Vincent-Delorme, Catherine; Wassmer, Evangeline; Westwood, Emma; Wheeler, Matthew T; Gulec, Elif Yilmaz; Vanderver, Adeline; Vossough, Arastoo; Sanders, Stephan J; Banka, Siddharth; Findlay, Gregory M; MacArthur, Daniel G; Simons, Cas; Whiffin, Nicola

The Biology of Endosomal Escape: Strategies for Enhanced Delivery of Therapeutics

内体逃逸的生物学:增强治疗药物递送的策略

Chahal, G S; Helbig, K J; Parton, R G; Monson, E A

Targeted long-read RNA sequencing for rare disease diagnosis and variant interpretation

靶向长读长RNA测序用于罕见病诊断和变异解读

Wang, Robert; Wang, Feng; DeBruyne, Nicole; Ji, Xinjun; Engelhardt, Nicole M; Park, Joseph Jee-Hwan; Notaro, Amber; Gaerlan, Samantha; Park, Ryan; Schultz, Matthew J; Clever, Sheila; McCormick, Elizabeth M; Keith, Kelsey; Ng, Bobby G; Kadash-Edmondson, Kathryn E; Freeze, Hudson H; Lam, Christina T; Morava, Eva; Helbig, Ingo; Falk, Marni J; Ganetzky, Rebecca D; Edmondson, Andrew C; Lin, Lan; Xing, Yi

Paediatric cerebrospinal fluid immune profiling distinguishes paediatric-onset multiple sclerosis from other paediatric-onset acute neurological disorders

儿童脑脊液免疫谱分析可区分儿童期发病的多发性硬化症与其他儿童期发病的急性神经系统疾病。

Espinoza, Diego A; Zrzavy, Tobias; Breville, Gautier; Thebault, Simon; Marefi, Amaar; Mexhitaj, Ina; Yamashita, Luana D; Kan, Mengyuan; Bacchus, Micky; Legaspi, Jessica; Fernandez, Samantha; Melamed, Anna; Stubblebine, Mallory; Winters, Angela; Virkler, Alister; Helbig, Ingo; Kim, Yeseul; Martinez, Zachary; Diorio, Caroline; Schulte-Mecklenbeck, Andreas; Wiendl, Heinz; Rezk, Ayman; Li, Rui; Narula, Sona; Waldman, Amy T; Hopkins, Sarah E; Banwell, Brenda; Bar-Or, Amit

Clinical trajectories and medication response in TBC1D24-related epilepsies

TBC1D24相关癫痫的临床轨迹和药物反应

Mondragon, Ealing; Magielski, Jan H; Bane, Bintou; Nolan, JoeyLynn; Ruggiero, Sarah M; Armstrong, Dallas; Arnold, Susan; Sirsi, Deepa; Helbig, Ingo; McKee, Jillian L

Histo-Miner: Deep learning based tissue features extraction pipeline from H&E whole slide images of cutaneous squamous cell carcinoma

Histo-Miner:基于深度学习的皮肤鳞状细胞癌H&E全切片图像组织特征提取流程

Sancéré, Lucas; Lorenz, Carina; Helbig, Doris; Persa, Oana-Diana; Dengler, Sonja; Kreuter, Alexander; Laimer, Martim; Lang, Roland; Fröhlich, Anne; Landsberg, Jennifer; Brägelmann, Johannes; Bozek, Katarzyna

Rethinking Disease Control in Aquaculture Invertebrates: Harnessing Innate Immunity in Molluscs and Crustaceans

重新思考水产养殖无脊椎动物的疾病控制:利用软体动物和甲壳类动物的先天免疫力

Ackerly, Danielle; Agius, Jacinta; Beveridge, Darcy; Helbig, Karla; Beddoe, Travis

Comprehensive geriatric assessment (CGA) scale does not effectively identify elderly AML patients suitable for intensive induction chemotherapy - a multicenter study from Polish Adult Leukemia Group

综合老年评估(CGA)量表不能有效识别适合接受强化诱导化疗的老年急性髓系白血病(AML)患者——波兰成人白血病组的一项多中心研究

Budziszewska, Bożena Katarzyna; Łomiak, Michał; Barankiewicz, Joanna; Patkowska, Elżbieta; Helbig, Grzegorz; Bołkun, Łukasz; Irga-Staniukiewicz, Anna; Kiżewska, Anna; Piekarska, Agnieszka; Koclęga, Anna; Pluta, Agnieszka; Kuydowicz, Marta; Kościołek-Zgódka, Sylwia; Cichocka, Edyta; Malenda, Agata; Wójcik, Karol; Gromek, Tomasz; Małecki, Piotr; Grosicki, Sebastian; Giebel, Sebastian; Wierzbowska, Agnieszka; Lech-Marańda, Ewa

The role of LHEP in spontaneous closure of full-thickness macular holes

LHEP在全层黄斑裂孔自发性闭合中的作用

Paschke, B; Helbig, H; Gamulescu, M A

Identification of decision-making criteria for device selection by cochlear implant patients - a pilot study

人工耳蜗植入患者选择设备决策标准的确定——一项试点研究

Bruschke, Stefanie; Stöver, Timo; Helbig, Silke; Baumann, Uwe