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

Adjuvant Imatinib or Observation in Patients With Gastrointestinal Stromal Tumors With KIT Exon 9 Mutations

对于伴有KIT基因9号外显子突变的胃肠道间质瘤患者,辅助伊马替尼治疗或观察的疗效评价

Napolitano, Andrea; Joensuu, Heikki; Rothschild, Sara; Evans, Denisse; Heinrich, Michael C; Sutton, Thomas L; Mayo, Skye C; Boye, Kjetil; Falkenhorst, Johanna; Le Cesne, Axel; Hohenberger, Peter; Rutkowski, Piotr; van Houdt, Winan J; Steeghs, Neeltje; Gelderblom, Hans; Desar, Ingrid M E; Pantaleo, Maria A; Nishida, Toshiro; Reichardt, Peter; Blay, Jean-Yves; Somaiah, Neeta; Haddad, Elise F Nassif; Grignani, Giovanni; Baldi, Giacomo G; Steigen, Sonja E; Braconi, Chiara; Nilsson, Bengt; Singh, Arun S; Fumagalli, Elena; Cananzi, Ferdinando C M; Italiano, Antoine; Ceruso, Mariella Spalato; Brunello, Antonella; Magnússon, Magnús K; Jonasson, Jon G; Marquina, Gloria; Hindi, Nadia; Cirilli, Claudia; Federico, Massimo; Fausti, Valentina; Bordoni, Andrea; Sufliarsky, Jozef; Mazzocca, Alessandro; Martin-Broto, Javier; Gronchi, Alessandro; Trent, Jonathan C; Casali, Paolo G; Bauer, Sebastian; Jones, Robin L; Vincenzi, Bruno

Functional consequence of pathogenic GABRA3 variants determines whether X-linked inheritance is dominant or recessive

致病性GABRA3变异的功能后果决定了X连锁遗传是显性遗传还是隐性遗传。

Johannesen, Katrine M; Aung, Khaing Phyu; Liao, Vivian Wy; Absalom, Nathan; Chua, Han C; Gan, Xue N; Mao, Miaomiao; McKenzie, Chaseley E; Lee, Hian M; Ortiz, Sebastian; Spillmann, Rebecca C; Shashi, Vandana; Radtke, Rodney A; Mirzaa, Ghayda M; Weisner, P Anne; Flores Daboub, Josue; Hagedorn, Caroline; Bayrak-Toydemir, Pinar; DeMille, Desiree; Zhao, Jian; Bajaj, Nandita; Capri, Yline; Keren, Boris; Schmidts, Miriam; van de Laar, Ingrid Mbh; van Slegtenhorst, Marjon A; Ploski, Rafal; Bogotko, Marta; Bourque, Danielle K; Alkhunaizi, Ebba; Chad, Lauren; Quercia, Nada; Elloumi, Houda; Wentzensen, Ingrid M; Kruer, Michael C; Bisarad, Pritha; Galaz-Montoya, Carolina I; Rusu, Violeta; Braun, Dominique; Angione, Katie; Win, Jessica C; Espinosa-Jovel, Camilo; Zacher, Pia; Platzer, Konrad; Berkovic, Samuel F; Scheffer, Ingrid E; Chebib, Mary; Rubboli, Guido; Møller, Rikke S; Reid, Christopher A; Ahring, Philip K

Variants in DENND2B are associated with vulnerability for neurodevelopmental impairment, psychosis and catatonia

DENND2B基因变异与神经发育障碍、精神病和紧张症的易感性相关。

Murthy, Harsha; Hoang, Ny; Stark, Jamie C; Cui, Sunny; Pannia, Emanuela; Tsoi, Chung Ting; Harris, Simon; Ceolin, C'airah; Verhaeghe, Lauren; Scholten, Sydney; Baribeau, Danielle; Summers, Jane; Costain, Gregory; Selvanayagam, Thanuja; Howe, Jennifer L; Lewis, M E Suzanne; Brunet, Theresa; Rieger, Susanne; Rosenfeld, Jill A; Craigen, William J; Burrage, Lindsay C; Christie, Michelle R; Baldwin, Deborah; Wentzensen, Ingrid M; Keren, Boris; Cogne, Benjamin; Isidor, Bertrand; Afenjar, Alexandra; Elshafie, Reem M; Bastaki, Laila; Alkanderi, Sumaya; Myers, Kenneth A; Demarest, Scott; Angione, Katie; Abbott, Megan; Campeau, Philippe M; Dowling, James J; Mendoza-Londono, Roberto; Scherer, Stephen W; Deshwar, Ashish R; Vorstman, Jacob

A novel spliceosomopathy caused by de novo SF3B3 variants.

一种由新生SF3B3变异引起的新型剪接体病。

Musante Luciana, Janos Pavel, Pianigiani Giulia, Cappelli Sara, Longo Alessandra, Alves Carolina, Schwaibold Eva Mc, Wagner Matias, Costain Gregory, Fridriksdottir Run, Stefansson Kari, Sulem Patrick, Lichtenbelt Klaske D, van Binsbergen Ellen, van Jaarsveld Richard H, Brusco Alfredo, Pavinato Lisa, Biamino Elisa, Spano Alessandra, Hildebrandt Clara C, Chan Yee-Ming, Groopman Emily, Berkenstadt Michal, Koboldt Daniel, Williamson Rachel, Brunner Han G, Vissers Lisenka Elm, Torring Pernille M, Hao Qin, Gelb Bruce D, Goldmuntz Elizabeth, Reed Kristen, Bedoukian Emma C, Vecchio Davide, Salzano Emanuela, Piccione Maria, Zanus Caterina, Mio Catia, Eichler Evan E, Wang Tianyun, Patterson Wesley G, Butler Kameryn M, Piotrowski Mattie, Mercier Sandra, Cogné Benjamin, Wentzensen Ingrid M, Buratti Emanuele, Magistrato Alessandra, Faletra Flavio

Diagnostic accuracy of FDG-PET-CT to predict axillary lymph node response after neo-adjuvant chemotherapy in lymph node-positive breast cancer patients

FDG-PET-CT 预测淋巴结阳性乳腺癌患者新辅助化疗后腋窝淋巴结反应的诊断准确性

Rajan, Kiran Kasper; Nijveldt, Joni J; Helthuis, Jasper H G; Roeloffzen, Ellen M A; Vendel, Brian; Nijholt, Ingrid M; Van't Veer-Ten Kate, Miranda; van der Starre, Jose; van der Steeg, Wim; Kruijff, Schelto; Beek, Martinus A; Francken, Anne Brecht

Diagnostic reference level curves for paediatric fluoroscopic imaging in the Netherlands

荷兰儿科透视成像诊断参考水平曲线

Croes, Goswin O; Nijholt, Ingrid M; Boomsma, Martijn F; Bleeker, Gitta; Greuter, Marcel J W; Jeukens, Cécile R L P N; van Pul, Carola; Siegersma, Jenny; Streekstra, Geert J; Vegter, Alie; Dam-Vervloet, Alida J

De novo heterozygous variants of the RSF1 gene are responsible for a syndromic neurodevelopmental disorder

RSF1基因的新生杂合变异是导致综合征性神经发育障碍的原因。

Jost, Céline; Busa, Tiffany; Wegner, Daniel; Shinawi, Marwan; Schaefer, Elise; Piton, Amélie; Schluth-Bolard, Caroline; Charles, Perrine; Keren, Boris; Mayerhanser, Katharina; Brunet, Theresa; Schatz, Ulrich; Neil, Jennifer E; Walsh, Christopher A; Sisco, Kathleen; J Paul, Alexander; Lee, Chung; Dykzeul, Natalie; Bonner, Devon; Bernstein, Jonathan A; Sutcliffe, Erin; Wentzensen, Ingrid M; Froehlich, Catherine; Liebler, Kaleigh; Galvin Parton, Patricia; Weiss-Burns, Jody; Sagnol, Chloé; Delanne, Julian; Racine, Caroline; Thauvin-Robinet, Christel; Safraou, Hana; Tran Mau-Them, Frédéric; Duffourd, Yannis; Bruel, Ange-Line; Faivre, Laurence

Pregnancy and Delivery Outcomes in Vascular Ehlers-Danlos Syndrome: A Retrospective Multicentre Cohort Study

血管型埃勒斯-当洛斯综合征的妊娠和分娩结局:一项回顾性多中心队列研究

van den Bersselaar, Lisa M; van de Laar, Ingrid M B H; Baars, Marieke J H; Baas, Annette; Dulfer, Eelco; Helderman-van den Enden, Apollonia T J M; Hilhorst-Hofstee, Yvonne; Kauling, Robert M; Kempers, Marlies J E; Oudijk, Martijn A; Maugeri, Alessandra; Brüggenwirth, Hennie T; Houweling, Arjan C; Demirdas, Serwet

Characterization of the clade 4 non-toxigenic C. difficile isolate L-NTCD03 carrying the cfr(B) gene

对携带 cfr(B) 基因的 4 分支非产毒艰难梭菌分离株 L-NTCD03 进行表征

Nibbering, Britt; Nooij, Sam; Harmanus, Céline; Sanders, Ingrid M J G; Miedema, Inez M; Ducarmon, Quinten R; Vossen, Rolf H A M; Kloet, Susan L; Ardis, Colleen K; Britton, Robert A; Yousefi, Farnaz; Bayne, Jenna; Charavaryamath, Chandrashekhar; Law, Andy; Murphy, Morgan L; Sponseller, Brett; Burrough, Eric R; Ramirez, Alejandro; Mooyottu, Shankumar; Opriessnig, Tanja; Kuijper, Ed J; Roestenberg, Meta; Smits, Wiep Klaas

Metabolome and Transcriptome Profiling of Chicory Roots Provide Insights Into Laticifer Development and Specialized Metabolism

菊苣根的代谢组和转录组分析揭示了乳汁管发育和特殊代谢的机制

Vahabi, Khabat; Balcke, Gerd U; Hakkert, Johanna C; van der Meer, Ingrid M; Athmer, Benedikt; Tissier, Alain