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

Once-Weekly Navepegritide in Children With Achondroplasia: The APPROACH Randomized Clinical Trial

每周一次使用萘培格里肽治疗软骨发育不全患儿:APPROACH随机临床试验

Savarirayan, Ravi; McDonnell, Ciara; Bacino, Carlos A; Hoernschemeyer, Daniel G; Legare, Janet M; Abuzzahab, M Jennifer; Hofman, Paul L; Campeau, Philippe M; de Bergua Domingo, Josep Maria; Ward, Leanne M; Smit, Kevin; Smith, Alden; Mao, Meng; Ominsky, Michael S; Freiberg, Lærke C; Shu, Aimee D; Hove, Hanne B

De novo variants in the splicing factor gene SF3B1 are associated with neurodevelopmental disorders

剪接因子基因SF3B1的新生变异与神经发育障碍相关。

Uguen, Kevin; Bergot, Tiffany; Scott-Boyer, Marie-Pier; Chapalain, Solène; Desdouets, Camille; Commet, Séverine; Zhu, Changlian; Xu, Yiran; Wang, Yangong; Roscioli, Tony; Tran-Mau-Them, Frederic; Faivre, Laurence; Maraval, Julien; Delanne, Julian; Denommé-Pichon, Anne-Sophie; Vitobello, Antonio; Jost, Céline; Planes, Marc; Hiatt, Susan; Wheeler, Patricia; Gonzaga-Jauregui, Claudia; Wang, Heng; Xin, Baozhong; Sency, Valerie; Kruer, Michael C; Bakhtiari, Somayeh; Sulem, Patrick; Curry, Cynthia; Prescott, Trine; Strobl-Wildemann, Gertrud; Brunet, Theresa; Doco Fenzy, Martine; Courtin, Thomas; Poirsier, Céline; Bjørg Hammer, Trine; Fenger, Christina D; MacPherson, Melissa; Izumi, Kosuke; Leonard, Jacqueline; Li, Dong; Zackai, Elaine H; Glass, Ian A; Ward, Scott; Campeau, Philippe M; Borroto, Maria Carla Hermida; Le Moigno, Laurence; Van Esch, Hilde; De Waele, Liesbeth; Calame, Daniel G; Lupski, James R; Barcia, Giulia; Peduto, Cristina; Planté-Bordeneuve, Pauline; Dupuis, Lucie; Mendoza-Londono, Roberto; Stavropoulos, Dimitri J; Gillibert-Duplantier, Jennifer; Besnard, Thomas; Do Souto Ferreira, Laura; Cogné, Benjamin; Bézieau, Stéphane; Droit, Arnaud; Corcos, Laurent; Lippert, Eric; Férec, Claude; Küry, Sebastien; Bernard, Delphine G

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

Corrigendum to "Defining Relationships Among Tests for Kidney Transplant Antibody-Mediated Rejection" [Kidney International Reports Volume 10, Issue 9, September 2025, Pages 3225-3238]

对“定义肾移植抗体介导排斥反应检测之间的关系”的更正[肾脏国际报告第10卷,第9期,2025年9月,第3225-3238页]

Madill-Thomsen, Katelynn S; Hidalgo, Luis G; Demko, Zachary P; Gauthier, Philippe M; Prewett, Adam; Lowe, Dave; Chang, Jessica J; Mackova, Martina; Budde, Klemens; Bromberg, Jonathan S; Halloran, Philip F

Hydrostatic pressure-enabled transformation in Natronomonas pharaonis: breaking barriers in haloalkaliphilic Archaea genetics

静水压力促进了法老纳氏单胞菌的转化:突破嗜盐嗜碱古菌遗传学的障碍

Bonnaud, Emma; Oger, Philippe M; Orzalesi, Mathieu; Louis, Yoann

Insights into Flow and Continuous Systems in Pharmaceutical Manufacturing: Challenges and Opportunities

深入了解制药生产中的流动和连续系统:挑战与机遇

Daly, Adrian M; Hardiman, Seán; Hogan, David; Morris, Gary; Moylan, Robert; O'Donovan, Barry; Power, Eoin; Phillips, Paul; Robinson, Shane; Roth, Philippe M C; Smyth, Megan; Magner, Edmond; Arthur, Aisling; McGlacken, Gerard P; Baumann, Marcus; Maguire, Anita R

Clinical expert opinion on the role of elosulfase alfa in non-ambulatory individuals with Morquio A syndrome

关于elosulfase alfa在患有Morquio A综合征的非行走患者中的作用的临床专家意见

de Souza, Carolina F M; Burton, Barbara K; Campeau, Philippe M; Giugliani, Roberto; Guffon, Nathalie; Lampe, Christina; Muschol, Nicole; Sivri, Serap; Solano, Martha; Stepien, Karolina M

A missing enzyme-rescue metabolite as cause of a rare skeletal dysplasia

缺失的酶拯救代谢物是导致罕见骨骼发育不良的原因

Jean Jacobs #,Hristiana Lyubenova #,Sven Potelle,Johannes Kopp ,Isabelle Gerin,Wing Lee Chan,Miguel Rodriguez de Los Santos ,Wiebke Hülsemann,Martin A Mensah ,Valérie Cormier-Daire,Marieke Joosten,Hennie T Bruggenwirth,Kyra E Stuurman,Valancy Miranda,Philippe M Campeau,Lars Wittler,Julie Graff,Stefan Mundlos ,Daniel M Ibrahim,Emile Van Schaftingen,Björn Fischer-Zirnsak ,Uwe Kornak,Nadja Ehmke ,Guido T Bommer  0

A missing enzyme-rescue metabolite as cause of a rare skeletal dysplasia

缺失的酶拯救代谢物是导致罕见骨骼发育不良的原因

Jean Jacobs # ,Hristiana Lyubenova # ,Sven Potelle ,Johannes Kopp ,Isabelle Gerin ,Wing Lee Chan ,Miguel Rodriguez de Los Santos ,Wiebke Hülsemann ,Martin A Mensah ,Valérie Cormier-Daire ,Marieke Joosten ,Hennie T Bruggenwirth ,Kyra E Stuurman ,Valancy Miranda ,Philippe M Campeau ,Lars Wittler ,Julie Graff ,Stefan Mundlos ,Daniel M Ibrahim ,Emile Van Schaftingen ,Björn Fischer-Zirnsak ,Uwe Kornak ,Nadja Ehmke ,Guido T Bommer

Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function

致病性UNC13A变异体通过损害突触功能导致神经发育综合征。

Asadollahi, Reza; Ahmad, Aisha; Boonsawat, Paranchai; Shahanoor Hinzen, Jasmine; Lohse, Mareike; Bouazza-Arostegui, Boris; Sun, Siqi; Utesch, Tillmann; Sommer, Jonas D; Ilic, Dragana; Padmanarayana, Murugesh; Fischermanns, Kati; Ranjan, Mrinalini; Boll, Moritz; Ka, Chandran; Piton, Amélie; Mattioli, Francesca; Isidor, Bertrand; Õunap, Katrin; Reinson, Karit; Wojcik, Monica H; Marshall, Christian R; Mercimek-Andrews, Saadet; Matsumoto, Naomichi; Miyake, Noriko; Stephan, Bruno de Oliveira; Honjo, Rachel Sayuri; Bertola, Debora R; Kim, Chong Ae; Yusupov, Roman; Mefford, Heather C; Christodoulou, John; Lee, Joy; Heath, Oliver; Brown, Natasha J; Baker, Naomi; Stark, Zornitza; Delatycki, Martin; Lake, Nicole J; Zeidler, Shimriet; Zuurbier, Linda; Maas, Saskia M; de Kruiff, Chris C; Rajabi, Farrah; Rodan, Lance H; Coury, Stephanie A; Platzer, Konrad; Oppermann, Henry; Abou Jamra, Rami; Beblo, Skadi; Maxton, Caroline; Śmigiel, Robert; Underhill, Hunter; Dubbs, Holly; Rosen, Alyssa; Helbig, Katherine L; Helbig, Ingo; Ruggiero, Sarah McKeown; Fitzgerald, Mark P; Kraemer, Dennis; Prada, Carlos E; Tenney, Jeffrey; Jayakar, Parul; Redon, Sylvia; Lefranc, Jérémie; Uguen, Kevin; Race, Simone; Efthymiou, Stephanie; Maroofian, Reza; Houlden, Henry; Coppens, Sandra; Deconinck, Nicolas; Ashokkumar, Balasubramaniem; Varalakshmi, Perumal; Gowda K, Vykunta Raju; Eghbal, Fatemeh; Ghayoor Karimiani, Ehsan; Heidari, Morteza; Neidhardt, John; Owczarek-Lipska, Marta; Korenke, G Christoph; Bamshad, Michael J; Campeau, Philippe M; Lehman, Anna; Hendon, Laura G; Wentzensen, Ingrid M; Monaghan, Kristin G; Chen, Yanmin; Szuto, Anna; Cohn, Ronald D; Au, Ping Yee Billie; Hübner, Christoph; Boschann, Felix; Manickam, Kandamurugu; Koboldt, Daniel C; Rad, Aboulfazl; Oprea, Gabriela; Bachman, Kristine K; Seeley, Andrea H; Agolini, Emanuele; Terracciano, Alessandra; Carmelo, Piscopo; Bupp, Caleb; Grysko, Bethany; Rein-Rothschild, Annick; Ben Zeev, Bruria; Margolin, Amy; Morrison, Jennifer; Dagli, Aditi; Stolerman, Elliot; Louie, Raymond J; Washington, Camerun; Stevens, Servi J C; Heijligers, Malou; Alkuraya, Fowzan S; Lisfeld, Jasmin; Neu, Axel; Paoli Monteiro, Fabíola; Santos Pessoa, André Luiz; Camelo-Filho, Antonio Edvan; Kok, Fernando; Koeberl, Dwight; Riley, Kacie; Burglen, Lydie; Doummar, Diane; Héron, Bénédicte; Mignot, Cyril; Keren, Boris; Charles, Perrine; Nava, Caroline; Bernhard, Felix P; Kühn, Andrea A; Thoms, Sven; Morrie, Ryan D; Mekhoubad, Shila; Green, Eric M; Barmada, Sami J; Gitler, Aaron D; Jahn, Olaf; Rhee, Jeong Seop; Rosenmund, Christian; Mitkovski, Mišo; Sticht, Heinrich; Sun, Han; Le Gac, Gerald; Taschenberger, Holger; Brose, Nils; Dittman, Jeremy S; Rauch, Anita; Lipstein, Noa