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

The Role of Health Literacy in Gastrointestinal Cancer Patients' Surgical Journey: A Qualitative Study

健康素养在胃肠癌患者手术过程中的作用:一项定性研究

Jones, Bayley A; Hernandez-Marquez, Gianina C; Mondia, Luke; Herbey, Ivan I; Smith, Burkely P; Ivankova, Nataliya V; Oslock, Wendelyn M; English, Nathan; Schoenberger, Yu-Mei; Pisu, Maria; Chu, Daniel I

Diagnostic Pitfall: Intrauterine Pseudogestational Sac Mimicking an Anembryonic Pregnancy in Tubal Ectopic Pregnancy A Case Report

诊断陷阱:输卵管异位妊娠中宫内假孕囊误诊为无胚胎妊娠——病例报告

Bunjamin, Ivan Albert; Gianina, Kristabella; Nisa, Aisyah Shofiatun; Bhanuwati, Qonita Raihanah; Juslin, Nazhira Putri; Aziz, Muhammad Alamsyah; Rahmarjanto, Bogie Prabowo

Biallelic variants in ARHGAP19 cause a progressive inherited motor-predominant neuropathy

ARHGAP19基因的双等位基因变异会导致进行性遗传性运动为主的神经病。

Dominik, Natalia; Efthymiou, Stephanie; Record, Christopher J; Miao, Xinyu; Lin, Renee Q; Parmar, Jevin M; Scardamaglia, Annarita; Maroofian, Reza; Lowe, Simon A; Aughey, Gabriel N; Wilson, Abigail D; Curro, Riccardo; Schnekenberg, Ricardo P; Alavi, Shahryar; Leclaire, Leif; He, Yi; Zhelcheska, Kristina; Bellaïche, Yohanns; Gaugué, Isabelle; Skorupinska, Mariola; Van de Vondel, Liedewei; Da'as, Sahar I; Turchetti, Valentina; Güngör, Serdal; Monahan, Gavin V; Ghayoor Karimiani, Ehsan; Jamshidi, Yalda; Lamont, Phillipa J; Armirola-Ricaurte, Camila; Topaloglu, Haluk; Jordanova, Albena; Zaman, Mashaya; Banu, Selina H; Marques, Wilson; Tomaselli, Pedro J; Aynekin, Busra; Cansu, Ali; Per, Huseyin; Güleç, Ayten; Alvi, Javeria Raza; Sultan, Tipu; Khan, Arif; Zifarelli, Giovanni; Ibrahim, Shahnaz; Mancini, Grazia M S; Motazacker, M M; Brusse, Esther; Lupo, Vincenzo; Sevilla, Teresa; Başak, A Nazli; Tekgul, Seyma; Palvadeau, Robin J; Baets, Jonathan; Parman, Yesim; Çakar, Arman; Horvath, Rita; Haack, Tobias B; Stahl, Jan-Hendrik; Grundmann-Hauser, Kathrin; Park, Joohyun; Zuchner, Stephan; Laing, Nigel G; Wilson, Lindsay A; Rossor, Alexander M; Polke, James; Figueiredo, Fernanda Barbosa; Pessoa, André; Kok, Fernando; Coimbra-Neto, Antônio Rodrigues; Franca, Marcondes C Jr; Ravenscroft, Gianina; Hamed, Sherifa A; Chung, Wendy K; Pittman, Alan M; Osborn, Daniel P; Hanna, Michael; Cortese, Andrea; Reilly, Mary M; Jepson, James Ec; Lamarche-Vane, Nathalie; Houlden, Henry

Somatic instability of the FGF14-SCA27B GAA•TTC repeat reveals a marked expansion bias in the cerebellum

FGF14-SCA27B GAA•TTC重复序列的体细胞不稳定性揭示了小脑中明显的扩增偏向性

Pellerin, David; Méreaux, Jean-Loup; Boluda, Susana; Danzi, Matt C; Dicaire, Marie-Josée; Davoine, Claire-Sophie; Genis, David; Spurdens, Guinevere; Ashton, Catherine; Hammond, Jillian M; Gerhart, Brandon J; Chelban, Viorica; Le, Phuong U; Safisamghabadi, Maryam; Yanick, Christopher; Lee, Hamin; Nageshwaran, Sathiji K; Matos-Rodrigues, Gabriel; Jaunmuktane, Zane; Petrecca, Kevin; Akbarian, Schahram; Nussenzweig, André; Usdin, Karen; Renaud, Mathilde; Bonnet, Céline; Ravenscroft, Gianina; Saporta, Mario A; Napierala, Jill S; Houlden, Henry; Deveson, Ira W; Napierala, Marek; Brice, Alexis; Molina Porcel, Laura; Seilhean, Danielle; Zuchner, Stephan; Durr, Alexandra; Brais, Bernard

HMGCS1 variants cause rigid spine syndrome amenable to mevalonic acid treatment in an animal model.

HMGCS1 变异体可导致脊柱僵硬综合征,在动物模型中可通过甲羟戊酸治疗治愈

Dofash Lein N H, Miles Lee B, Saito Yoshihiko, Rivas Eloy, Calcinotto Vanessa, Oveissi Sara, Serrano Rita J, Templin Rachel, Ramm Georg, Rodger Alison, Haywood Joel, Ingley Evan, Clayton Joshua S, Taylor Rhonda L, Folland Chiara L, Groth David, Hock Daniella H, Stroud David A, Gorokhova Svetlana, Donkervoort Sandra, Bönnemann Carsten G, Sud Malika, VanNoy Grace E, Mangilog Brian E, Pais Lynn, O'Donnell-Luria Anne, Madruga-Garrido Marcos, Scala Marcello, Fiorillo Chiara, Baratto Serena, Traverso Monica, Malfatti Edoardo, Bruno Claudio, Zara Federico, Paradas Carmen, Ogata Katsuhisa, Nishino Ichizo, Laing Nigel G, Bryson-Richardson Robert J, Cabrera-Serrano Macarena, Ravenscroft Gianina

Central Zika virus infection causes hypothalamic inflammation and persistent insulin resistance in adult mice.

寨卡病毒中枢感染会导致成年小鼠下丘脑炎症和持续性胰岛素抵抗。

de Lima Emanuelle V, Nogueira Clara O, Christoff Raissa R, Costa-Bartuli Emylle, Igreja-Silva Tathiany, da Silva Mariana Oliveira Lopes, Gavino-Leopoldino Daniel, Santos Maria Luiza Móra, Lemos Felipe Simões, da Costa Jaderson C, Venturin Gianina T, Assunção-Miranda Iranaia, Duarte João M N, Figueiredo Claudia P, Passos Giselle F, Clarke Julia R

Untargeted UHPLC-HRMS Metabolomic Profiling of Cornus mas L. Fruits: Impact of Conventional and Emerging Extraction Methods on Phenolic Composition and Bioactivity

利用非靶向超高效液相色谱-高分辨率质谱(UHPLC-HRMS)对山茱萸果实进行代谢组学分析:传统和新兴提取方法对酚类成分和生物活性的影响

Frumuzachi, Oleg; Nicolescu, Alexandru; Babotă, Mihai; Mocan, Andrei; Lucini, Luigi; Rohn, Sascha; Crișan, Gianina; Rocchetti, Gabriele

Diagnosing missed cases of spinal muscular atrophy in genome, exome, and panel sequencing data sets

利用基因组、外显子组和panel测序数据集诊断漏诊的脊髓性肌萎缩症病例

Weisburd, Ben; Sharma, Rakshya; Pata, Villem; Reimand, Tiia; Ganesh, Vijay S; Austin-Tse, Christina; Osei-Owusu, Ikeoluwa; O'Heir, Emily; O'Leary, Melanie; Pais, Lynn; Stafki, Seth A; Daugherty, Audrey L; Folland, Chiara; Peric, Stojan; Fahmy, Nagia; Udd, Bjarne; Horáková, Magda; Łusakowska, Anna; Manoj, Rajanna; Nalini, Atchayaram; Karcagi, Veronika; Polavarapu, Kiran; Lochmüller, Hanns; Horvath, Rita; Bönnemann, Carsten G; Donkervoort, Sandra; Haliloğlu, Göknur; Herguner, Ozlem; Kang, Peter B; Ravenscroft, Gianina; Laing, Nigel; Scott, Hamish S; Töpf, Ana; Straub, Volker; Pajusalu, Sander; Õunap, Katrin; Tiao, Grace; Rehm, Heidi L; O'Donnell-Luria, Anne

The characterization of Klebsiella pneumoniae associated with neonatal sepsis in low- and middle-income countries to inform vaccine design

对低收入和中等收入国家新生儿败血症相关肺炎克雷伯菌进行特征分析,以指导疫苗设计

Nonne, Francesca; Molfetta, Mariagrazia; Belciug, Gianina Florentina; Carducci, Martina; Cianchi, Virginia; Zakroff, Casey; Durante, Salvatore; Zellmer, Caroline; Baker, Stephen; Stanton, Thomas D; Holt, Kathryn E; Wyres, Kelly; Ravenscroft, Neil; Gasperini, Gianmarco; Rossi, Omar; Giannelli, Carlo; Berlanda Scorza, Francesco; Micoli, Francesca

Living Gluten-Free in Romania: A National Cross-Sectional Study of Dietary Adherence in Clinically Diagnosed and Self-Reported Cases

罗马尼亚无麸质生活:一项针对临床诊断和自我报告病例的全国横断面饮食依从性研究

Stanciu, Dana; Staykov, Hristian; Dragomanova, Stela; Tancheva, Lyubka; Dimitrova, Simeonka; Țundrea, Emanuel; Crișan, Gianina