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

PTBP1 variants displaying altered nucleocytoplasmic distribution are responsible for a neurodevelopmental disorder with skeletal dysplasia

PTBP1 变异体表现出核质分布改变,是导致伴有骨骼发育不良的神经发育障碍的原因。

Masson, Aymeric; Paccaud, Julien; Orefice, Martina; Colin, Estelle; Mäkitie, Outi; Cormier-Daire, Valérie; Relator, Raissa; Ghosh, Sourav; Strub, Jean-Marc; Schaeffer-Reiss, Christine; Marcelis, Carlo; Koolen, David A; Pfundt, Rolph; de Boer, Elke; Vissers, Lisenka Elm; Gardeitchik, Thatjana; Aarts, Lonneke Am; Rinne, Tuula; Terhal, Paulien A; Verbeek, Nienke E; Zuurbier, Linda C; Plomp, Astrid S; Wessels, Marja W; de Man, Stella A; Bouman, Arjan; Bird, Lynne M; Saadeh-Haddad, Reem; Guillen Sacoto, Maria J; Person, Richard; Gooch, Catherine; Hurst, Anna Ce; Thompson, Michelle L; Hiatt, Susan M; Littlejohn, Rebecca O; Roeder, Elizabeth R; Mori, Mari; Hickey, Scott E; Hunter, Jesse M; Lee, Kristy; Osman, Khaled; Halloun, Rana; Bachmann-Gagescu, Ruxandra; Rauch, Anita; Wieczorek, Dagmar; Platzer, Konrad; Luppe, Johannes; Duplomb-Jego, Laurence; El It, Fatima; Duffourd, Yannis; Tran Mau-Them, Frédéric; Huber, Celine; Gordon, Christopher T; Taylan, Fulya; Mäkitie, Riikka E; Costantini, Alice; Valta, Helena; Robertson, Stephen; Poke, Gemma; Francoise, Michel; Ciolfi, Andrea; Tartaglia, Marco; Ekhilevitch, Nina; Zaid, Rinat; Levy, Michael A; Kerkhof, Jennifer; McConkey, Haley; Delanne, Julian; Chevarin, Martin; Vautrot, Valentin; Bourgeois, Valentin; Nguyen, Sylvie; Marle, Nathalie; Callier, Patrick; Safraou, Hana; Morgan, Angela; Amor, David J; Hildebrand, Michael S; Coman, David; Aubert Mucca, Marion; Thevenon, Julien; Laffargue, Fanny; Bilan, Frédéric; Pebrel-Richard, Céline; Yoon, Grace; Axford, Michelle M; Pérez-Jurado, Luis A; Sevilla-Porras, Marta; Black, Douglas L; Philippe, Christophe; Sadikovic, Bekim; Thauvin-Robinet, Christel; Olivier-Faivre, Laurence; Ori, Michela; Thomas, Quentin; Vitobello, Antonio

An Unexpected Complication of Gastroenteritis

胃肠炎的意外并发症

Grignard, Jolan; Silber, Kevin; Paccaud, Heloise; Fabien, Guérisse

Incidence and Management of Neonatal Pneumothorax in a 10-Hospital Regional Perinatal Network in Switzerland: A Retrospective Observational Study

瑞士10家医院区域围产期网络中新生儿气胸的发生率和治疗:一项回顾性观察研究

Baudat-Nguyen, Julie; Schneider, Juliane; Roth-Kleiner, Matthias; Barrielle, Laureline; Diebold, Patrick; Duvoisin, Gilles; El Faleh, Ikbel; Grupe, Silke; Huber, Benedikt M; Morel, Anne-Sophie; Paccaud, Yan; Torregrossa, Anais; Younes, Dany; Tolsa, Jean-François; Truttmann, Anita C

NADPH oxidase 4 deficiency attenuates experimental osteoarthritis in mice

NADPH氧化酶4缺乏可减轻小鼠实验性骨关节炎。

Renaudin, Félix; Oudina, Karim; Gerbaix, Maude; McGilligan Subilia, Manon; Paccaud, Joris; Jaquet, Vincent; Krause, Karl-Heinz; Ferrari, Serge; Laumonier, Thomas; Hannouche, Didier

Stepwise use of genomics and transcriptomics technologies increases diagnostic yield in Mendelian disorders

逐步使用基因组学和转录组学技术可提高孟德尔遗传病的诊断率

Estelle Colin, Yannis Duffourd, Martin Chevarin, Emilie Tisserant, Simon Verdez, Julien Paccaud, Ange-Line Bruel, Frédéric Tran Mau-Them, Anne-Sophie Denommé-Pichon, Julien Thevenon, Hana Safraou, Thomas Besnard, Alice Goldenberg, Benjamin Cogné, Bertrand Isidor, Julian Delanne, Arthur Sorlin, Sébas

Bi-allelic loss-of-function variants in TMEM147 cause moderate to profound intellectual disability with facial dysmorphism and pseudo-Pelger-Huët anomaly

TMEM147基因的双等位基因功能缺失变异会导致中度至重度智力障碍,伴有面部畸形和假性佩尔格-于埃综合征。

Thomas, Quentin; Motta, Marialetizia; Gautier, Thierry; Zaki, Maha S; Ciolfi, Andrea; Paccaud, Julien; Girodon, François; Boespflug-Tanguy, Odile; Besnard, Thomas; Kerkhof, Jennifer; McConkey, Haley; Masson, Aymeric; Denommé-Pichon, Anne-Sophie; Cogné, Benjamin; Trochu, Eva; Vignard, Virginie; El It, Fatima; Rodan, Lance H; Alkhateeb, Mohammad Ayman; Jamra, Rami Abou; Duplomb, Laurence; Tisserant, Emilie; Duffourd, Yannis; Bruel, Ange-Line; Jackson, Adam; Banka, Siddharth; McEntagart, Meriel; Saggar, Anand; Gleeson, Joseph G; Sievert, David; Bae, Hyunwoo; Lee, Beom Hee; Kwon, Kisang; Seo, Go Hun; Lee, Hane; Saeed, Anjum; Anjum, Nadeem; Cheema, Huma; Alawbathani, Salem; Khan, Imran; Pinto-Basto, Jorge; Teoh, Joyce; Wong, Jasmine; Sahari, Umar Bin Mohamad; Houlden, Henry; Zhelcheska, Kristina; Pannetier, Melanie; Awad, Mona A; Lesieur-Sebellin, Marion; Barcia, Giulia; Amiel, Jeanne; Delanne, Julian; Philippe, Christophe; Faivre, Laurence; Odent, Sylvie; Bertoli-Avella, Aida; Thauvin, Christel; Sadikovic, Bekim; Reversade, Bruno; Maroofian, Reza; Govin, Jérôme; Tartaglia, Marco; Vitobello, Antonio

A Nonprofit Drug Development Model Is Part of the Antimicrobial Resistance (AMR) Solution

非营利药物研发模式是抗微生物耐药性(AMR)解决方案的一部分

Piddock, Laura J V; Paccaud, Jean-Pierre; O'Brien, Seamus; Childs, Michelle; Malpani, Rohit; Balasegaram, Manica

The co-conditioning of dis/ability and gender: An intersectionality study of Powerchair Hockey

残疾与性别之间的相互制约:电动轮椅曲棍球的交叉性研究

Paccaud, Laurent

Increased glucocorticoid metabolism in diabetic kidney disease.

糖尿病肾病中糖皮质激素代谢增加

Ackermann Daniel, Vogt Bruno, Bochud Murielle, Burnier Michel, Martin Pierre-Yves, Paccaud Fred, Ehret Georg, Guessous Idris, Ponte Belen, Pruijm Menno, Pechère-Bertschi Antoinette, Jamin Heidi, Klossner Rahel, Dick Bernhard, Mohaupt Markus G, Gennari-Moser Carine

The effect of BMI on long-term outcomes after operatively treated ankle fractures: a study with up to 16 years of follow-up

BMI对踝关节骨折手术治疗后长期疗效的影响:一项长达16年随访的研究

Cardoso, Diogo Vieira; Paccaud, Joris; Dubois-Ferrière, Victor; Barea, Christophe; Hannouche, Didier; Veljkovic, Andrea; Lübbeke, Anne