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

Condition-Specific Growth Charts for Children With Alagille Syndrome

阿拉吉尔综合征患儿的特定生长曲线图

Huysentruyt, Koen; Vandriel, Shannon M; Roelants, Mathieu; Piccoli, David A; Loomes, Kathleen M; Rand, Elizabeth B; Ebel, Noelle H; Feinstein, Jeffrey A; Jankowska, Irena; Czubkowski, Piotr; Gliwicz-Miedzinska, Dorota; Gonzales, Emmanuel M; Jacquemin, Emmanuel; Bouligand, Jérôme; Karpen, Saul J; Romero, Rene; Lin, Henry C; Fischler, Björn; Arnell, Henrik; Li, Li-Ting; Wang, Jian-She; Fawaz, Rima; Nastasio, Silvia; Kim, Kyung Mo; Oh, Seak Hee; D'Antiga, Lorenzo; Nicastro, Emanuele; Fischer, Ryan T; Siew, Susan M; Stormon, Michael; Lertudomphonwanit, Chatmanee; Hardikar, Winita; Shankar, Sahana; Squires, James E; Sundaram, Shikha S; Larson-Nath, Catherine; Kelly, Deirdre A; Hartley, Jane; Bulut, Pinar; Jensen, M Kyle; Jaramillo, Catalina; Roberts, Amin J; Evans, Helen M; Sokal, Étienne M; Demaret, Tanguy; Verkade, Henkjan J; Thompson, Richard J; Hansen, Bettina E; Cole, Tim J; Kamath, Binita M; Debray, Dominique; Lacaille, Florence; Brecelj, Jernej; El-Koofy, Nehal M; Elmonem, Mohamed A; Lee, Way Seah; Sanchez, Maria Camila; Cavalieri, Maria Lorena; Hajinicolaou, Christina; Schwarz, Kathleen B; Carvalho, Elisa; Rock, Nathalie; Karnsakul, Wikrom; Quiros-Tejeira, Ruben E; Alam, Seema; Nebbia, Gabriella; Mozer-Glassberg, Yael; Valentino, Pamela L; Santos-Silva, Ermelinda; Önal, Zerrin; Dezsofi-Gottl, Antal; Melere, Melina; Legarda Tamara, María; Eshun, John; Zellos, Aglaia; Indolfi, Giuseppe; Rogalidou, Maria; Blondet, Niviann; Luigi Calvo, Pier; Beretta, Marisa; Zizzo, Andréanne N; Arikan, Cigdem; Kasahara, Mureo; Kerkar, Nanda; Aqul, Amal A; Wolters, Victorien M; Borges Pinto, Raquel; Quintero Bernabeu, Jesus; Garcia, Jennifer; Wiecek, Sabina; Tzivinikos, Christos; Mujawar, Quais; Jimenez-Rivera, Carolina; Molera Busoms, Cristina; Gonçalves, Cristina; Bujanda, Luis

Genomic and Transcriptomic Profile of HNF1A-Mutated Liver Adenomas Highlights Molecular Signature and Potential Therapeutic Implications

HNF1A突变肝腺瘤的基因组和转录组特征揭示了其分子特征和潜在的治疗意义

Angelo Corso Faini ,Francesca Arruga ,Michele Pinon ,Valeria Bracciamà ,Francesco Edoardo Vallone ,Fiorenza Mioli ,Monica Sorbini ,Martina Migliorero ,Alessandro Gambella ,Damiano Carota ,Isaac Giraudo ,Paola Cassoni ,Silvia Catalano ,Renato Romagnoli ,Antonio Amoroso ,Pier Luigi Calvo ,Tiziana Vaisitti ,Silvia Deaglio

TMEM199 Deficiency Is a Disorder of Golgi Homeostasis Characterized by Elevated Aminotransferases, Alkaline Phosphatase, and Cholesterol and Abnormal Glycosylation

TMEM199 缺乏症是一种高尔基体内平衡紊乱症,其特征是氨基转移酶、碱性磷酸酶和胆固醇升高以及糖基化异常

Jos C Jansen, Sharita Timal, Monique van Scherpenzeel, Helen Michelakakis, Dorothée Vicogne, Angel Ashikov, Marina Moraitou, Alexander Hoischen, Karin Huijben, Gerry Steenbergen, Marjolein A W van den Boogert, Francesco Porta, Pier Luigi Calvo, Mersyni Mavrikou, Giovanna Cenacchi, Geert van den Boga