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

Platelet lipidome alterations in septic shock: a matched case-control study

脓毒性休克中血小板脂质组的改变:一项匹配的病例对照研究

de Cartier d'Yves, Emma; Dechamps, Melanie; Ambroise, Jérôme; Forest, Anik; Daneault, Caroline; Campion, Alessandro; Robaux, Valentine; De Poortere, Julien; Octave, Marie; Ginion, Audrey; Pirotton, Laurence; Muscia, Gabriele; Tersteeg, Claudia; Gruson, Damien; Van Dievoet, Marie-Astrid; Douxfils, Jonathan; Haguet, Hélène; Morimont, Laure; Derive, Marc; Montiel, Virginie; Bertrand, Luc; Rosiers, Christine Des; Horman, Sandrine; Beauloye, Christophe

Heterozygous UBR5 variants result in a neurodevelopmental syndrome with developmental delay, autism, and intellectual disability

UBR5基因杂合变异会导致一种神经发育综合征,表现为发育迟缓、自闭症和智力障碍。

Sabeh, Pascale; Dumas, Samantha A; Maios, Claudia; Daghar, Hiba; Korzeniowski, Marek; Rousseau, Justine; Lines, Matthew; Guerin, Andrea; Millichap, John J; Landsverk, Megan; Grebe, Theresa; Lindstrom, Kristin; Strober, Jonathan; Ait Mouhoub, Tarik; Zweier, Christiane; Steinraths, Michelle; Hebebrand, Moritz; Callewaert, Bert; Abou Jamra, Rami; Kautza-Lucht, Monika; Wegler, Meret; Kruszka, Paul; Kumps, Candy; Banne, Ehud; Waberski, Marta Biderman; Dieux, Anne; Raible, Sarah; Krantz, Ian; Medne, Livija; Pechter, Kieran; Villard, Laurent; Guerrini, Renzo; Bianchini, Claudia; Barba, Carmen; Mei, Davide; Blanc, Xavier; Kallay, Christine; Ranza, Emmanuelle; Yang, Xiao-Ru; O'Heir, Emily; Donald, Kirsten A; Murugasen, Serini; Bruwer, Zandre; Calikoglu, Muge; Mathews, Jennifer M; Lesieur-Sebellin, Marion; Baujat, Geneviève; Derive, Nicolas; Pierson, Tyler Mark; Murrell, Jill R; Shillington, Amelle; Ormieres, Clothilde; Rondeau, Sophie; Reis, André; Fernandez-Jaen, Alberto; Au, Ping Yee Billie; Sweetser, David A; Briere, Lauren C; Couque, Nathalie; Perrin, Laurence; Schymick, Jennifer; Gueguen, Paul; Lefebvre, Mathilde; Van Andel, Michael; Juusola, Jane; Antonarakis, Stylianos E; Parker, J Alex; Burnett, Barrington G; Campeau, Philippe M

Tumor-dependent myeloid and lymphoid cell recruitment in genO-BRGSF-HIS mice: a novel tool for evaluating immunotherapies

genO-BRGSF-HIS小鼠中肿瘤依赖性髓系和淋巴系细胞募集:一种评估免疫疗法的新工具

Gaëlle H Martin ,Siham Hedir ,Florent Creusat ,Alexis Gonon ,Amélie Marguier ,Perrine Martin-Jeantet ,Lise Nouveau ,Laura Cons ,Florence Renart-Depontieu ,Valery Moine ,Marc Derive ,Yacine Cherifi ,Margarida T Grilo Ruivo ,Fabiane Sônego ,Kader Thiam

Uniparental IsoDisomy: a case study on a new mechanism of Friedreich ataxia

单亲同源二体:弗里德赖希共济失调新机制的案例研究

Sperelakis-Beedham, Brian; Gitiaux, Cyril; Rajaoba, Marine; Magen, Maryse; Derive, Nicolas; Chansard, Jerome; de Sainte Agathe, Jean-Madeleine; Maurin, Marie-Laure; Assouline, Zahra; Barnerias, Christine; Desguerre, Isabelle; Steffann, Julie; Barcia, Giulia

Consolidating the Role of Mutated ATP2B2 in Neurodevelopmental and Cerebellar Pathologies

巩固突变型 ATP2B2 在神经发育和小脑病理学中的作用

Stehr, Antonia M; Lenberg, Jerica; Friedman, Jennifer; Dobbelaere, Dries; Imbard, Apolline; Levy, Jonathan; Donoghue, Sarah; Derive, Nicolas; Stoeva, Radka; Gueguen, Paul; Zech, Michael

Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals

布莱恩特-李-博伊综合征(Bryant-Li-Bhoj syndrome)神经发育和神经退行性疾病的表型谱扩展,新增38例患者

Layo-Carris, Dana E; Lubin, Emily E; Sangree, Annabel K; Clark, Kelly J; Durham, Emily L; Gonzalez, Elizabeth M; Smith, Sarina; Angireddy, Rajesh; Wang, Xiao Min; Weiss, Erin; Toutain, Annick; Mendoza-Londono, Roberto; Dupuis, Lucie; Damseh, Nadirah; Velasco, Danita; Valenzuela, Irene; Codina-Solà, Marta; Ziats, Catherine; Have, Jaclyn; Clarkson, Katie; Steel, Dora; Kurian, Manju; Barwick, Katy; Carrasco, Diana; Dagli, Aditi I; Nowaczyk, M J M; Hančárová, Miroslava; Bendová, Šárka; Prchalova, Darina; Sedláček, Zdeněk; Baxová, Alica; Nowak, Catherine Bearce; Douglas, Jessica; Chung, Wendy K; Longo, Nicola; Platzer, Konrad; Klöckner, Chiara; Averdunk, Luisa; Wieczorek, Dagmar; Krey, Ilona; Zweier, Christiane; Reis, Andre; Balci, Tugce; Simon, Marleen; Kroes, Hester Y; Wiesener, Antje; Vasileiou, Georgia; Marinakis, Nikolaos M; Veltra, Danai; Sofocleous, Christalena; Kosma, Konstantina; Traeger Synodinos, Joanne; Voudris, Konstantinos A; Vuillaume, Marie-Laure; Gueguen, Paul; Derive, Nicolas; Colin, Estelle; Battault, Clarisse; Au, Billie; Delatycki, Martin; Wallis, Mathew; Gallacher, Lyndon; Majdoub, Fatma; Smal, Noor; Weckhuysen, Sarah; Schoonjans, An-Sofie; Kooy, R Frank; Meuwissen, Marije; Cocanougher, Benjamin T; Taylor, Kathryn; Pizoli, Carolyn E; McDonald, Marie T; James, Philip; Roeder, Elizabeth R; Littlejohn, Rebecca; Borja, Nicholas A; Thorson, Willa; King, Kristine; Stoeva, Radka; Suerink, Manon; Nibbeling, Esther; Baskin, Stephanie; L E Guyader, Gwenaël; Kaplan, Julie; Muss, Candace; Carere, Deanna Alexis; Bhoj, Elizabeth J K; Bryant, Laura M

Correction: Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals

更正:布莱恩特-李-博伊综合征(Bryant-Li-Bhoj syndrome)是一种神经发育和神经退行性疾病,其表型谱已扩展,新增了38例患者。

Layo-Carris, Dana E; Lubin, Emily E; Sangree, Annabel K; Clark, Kelly J; Durham, Emily L; Gonzalez, Elizabeth M; Smith, Sarina; Angireddy, Rajesh; Wang, Xiao Min; Weiss, Erin; Toutain, Annick; Mendoza-Londono, Roberto; Dupuis, Lucie; Damseh, Nadirah; Velasco, Danita; Valenzuela, Irene; Codina-Solà, Marta; Ziats, Catherine; Have, Jaclyn; Clarkson, Katie; Steel, Dora; Kurian, Manju; Barwick, Katy; Carrasco, Diana; Dagli, Aditi I; Nowaczyk, M J M; Hančárová, Miroslava; Bendová, Šárka; Prchalova, Darina; Sedláček, Zdeněk; Baxová, Alica; Nowak, Catherine Bearce; Douglas, Jessica; Chung, Wendy K; Longo, Nicola; Platzer, Konrad; Klöckner, Chiara; Averdunk, Luisa; Wieczorek, Dagmar; Krey, Ilona; Zweier, Christiane; Reis, Andre; Balci, Tugce; Simon, Marleen; Kroes, Hester Y; Wiesener, Antje; Vasileiou, Georgia; Marinakis, Nikolaos M; Veltra, Danai; Sofocleous, Christalena; Kosma, Konstantina; Synodinos, Joanne Traeger; Voudris, Konstantinos A; Vuillaume, Marie-Laure; Gueguen, Paul; Derive, Nicolas; Colin, Estelle; Battault, Clarisse; Au, Billie; Delatycki, Martin; Wallis, Mathew; Gallacher, Lyndon; Majdoub, Fatma; Smal, Noor; Weckhuysen, Sarah; Schoonjans, An-Sofie; Kooy, R Frank; Meuwissen, Marije; Cocanougher, Benjamin T; Taylor, Kathryn; Pizoli, Carolyn E; McDonald, Marie T; James, Philip; Roeder, Elizabeth R; Littlejohn, Rebecca; Borja, Nicholas A; Thorson, Willa; King, Kristine; Stoeva, Radka; Suerink, Manon; Nibbeling, Esther; Baskin, Stephanie; Guyader, Gwenaël L E; Kaplan, Julie; Muss, Candace; Carere, Deanna Alexis; Bhoj, Elizabeth J K; Bryant, Laura M

An Update of Phenotypic-Genotypic IMNEPD Cases and a Bioinformatics Analysis of the New PTRH2 Gene Variants

IMNEPD 表型-基因型病例更新及新 PTRH2 基因变异的生物信息学分析

Sharkia, Rajech; Vuillaume, Marie-Laure; Jain, Sahil; Mahajnah, Muhammad; Stoeva, Radka; Guichet, Agnès; Colin, Estelle; Champ, Jérome; Derive, Nicolas; Chefdor, Arnaud; Zalan, Abdelnaser

Evaluation of the efficacy and safety of TREM-1 inhibition with nangibotide in patients with COVID-19 receiving respiratory support: the ESSENTIAL randomised, double-blind trial

评估使用纳吉博肽抑制TREM-1治疗接受呼吸支持的COVID-19患者的疗效和安全性:ESSENTIAL随机、双盲试验

François, Bruno; Lambden, Simon; Garaud, Jean-Jacques; Derive, Marc; Grouin, Jean-Marie; Asfar, Pierre; Darreau, Cédric; Mira, Jean-Paul; Quenot, Jean-Pierre; Lemarié, Jérémie; Mercier, Emmanuelle; Lacherade, Jean-Claude; Vinsonneau, Christophe; Fivez, Tom; Helms, Julie; Badie, Julio; Levy, Mitchell; Cuvier, Valérie; Salcedo-Magguilli, Margarita; Laszlo-Pouvreau, Anne-Lise; Laterre, Pierre-François; Gibot, Sébastien

Olaparib in the Setting of Radiotherapy-Associated Sarcoma: What Can Precision Medicine Offer For Rare Cancers?

奥拉帕尼在放射治疗相关肉瘤中的应用:精准医疗能为罕见癌症带来什么帮助?

Diaddin Hamdan, Laetitia Marisa, Camille Tlemsani, Eurydice Angeli, Michael Soussan, Nicolas Derive, Pierre Laurent-Puig, Guilhem Bousquet