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

A comprehensive framework for the interpretation of TTN missense variants

用于解释 TTN 错义变异的综合框架

Di Feo, Maria Francesca; Rees, Martin; Lillback, Victoria; Kho, Ay Lin; Meybatova, Angelina; Holt, Mark; Jungbluth, Heinz; Muntoni, Francesco; Baranello, Giovanni; Sarkozy, Anna; Fiorillo, Chiara; Baratto, Serena; Bruno, Claudio; Traverso, Monica; Iacomino, Michele; Pedemonte, Marina; Brolatti, Noemi; Faravelli, Francesca; Zara, Federico; Mandarà, G M Luana; Beggs, Alan H; Genetti, Casie A; Barraza-Flores, Pamela; Rodolico, Carmelo; Messina, Sonia; Schnabel, Franziska; Balogh, Istvan; Szakszon, Katalin; Sarv, Siiri; Õunap, Katrin; Ricci, Federica Silvia; Mussa, Alessandro; Malfatti, Edoardo; Bertini, Enrico Silvio; D'Amico, Adele; Diodato, Daria; Catteruccia, Michela; Ravenscroft, Gianina; Johari, Mridul; Kurbatov, Sergei A; Chausova, Polina; Murtazina, Aysylu; Kuchina, Anna; Shchagina, Olga; Drakos, Minas; Spilioti, Martha; Evangeliou, Athanasios E; Zaganas, Ioannis; Zhong, Huahua; Luo, Sushan; Merlini, Luciano; Nguyen, Cam-Tu-Emilie; Tasca, Giorgio; Reeves, Tara; Mörner, Stellan; Danielsson, Olof; Udd, Bjarne; Gautel, Mathias; Savarese, Marco

CNN-based detection of pediatric lymphoma on whole body [(18)F]FDG-PET/MRI

基于卷积神经网络的全身[(18)F]FDG-PET/MRI儿童淋巴瘤检测

Singh, Shashi B; Lokesha, Yashas Ullas; Wang, Hongzhi; Barrow, Michael Joseph; von Kruechten, Ricarda; Vasyliv, Iryna; Sarrami, Amir Hossein; Wu, Joy Tzung-Yu; Baratto, Lucia; Adams, Lisa Christine; Kim, Hyun Gi; Wong, Jason; Liang, Tie; Gatidis, Sergios; Syeda-Mahmood, Tanveer; Daldrup-Link, Heike E

HMGCS1 variants cause rigid spine syndrome amenable to mevalonic acid treatment in an animal model.

HMGCS1 变异体可导致脊柱僵硬综合征,在动物模型中可通过甲羟戊酸治疗治愈

Dofash Lein N H, Miles Lee B, Saito Yoshihiko, Rivas Eloy, Calcinotto Vanessa, Oveissi Sara, Serrano Rita J, Templin Rachel, Ramm Georg, Rodger Alison, Haywood Joel, Ingley Evan, Clayton Joshua S, Taylor Rhonda L, Folland Chiara L, Groth David, Hock Daniella H, Stroud David A, Gorokhova Svetlana, Donkervoort Sandra, Bönnemann Carsten G, Sud Malika, VanNoy Grace E, Mangilog Brian E, Pais Lynn, O'Donnell-Luria Anne, Madruga-Garrido Marcos, Scala Marcello, Fiorillo Chiara, Baratto Serena, Traverso Monica, Malfatti Edoardo, Bruno Claudio, Zara Federico, Paradas Carmen, Ogata Katsuhisa, Nishino Ichizo, Laing Nigel G, Bryson-Richardson Robert J, Cabrera-Serrano Macarena, Ravenscroft Gianina

Behavioural components and delivery features of early childhood obesity prevention interventions: intervention coding of studies in the TOPCHILD Collaboration systematic review

早期儿童肥胖预防干预措施的行为成分和实施特征:TOPCHILD协作系统评价中研究的干预编码

Johnson, Brittany J; Chadwick, Paul M; Pryde, Samantha; Seidler, Anna Lene; Hunter, Kylie E; Aberoumand, Mason; Williams, Jonathan G; Lau, Hei In; Libesman, Sol; Aagerup, Jannik; Barba, Angie; Baur, Louise A; Morgillo, Samantha; Sanders, Lee; Taki, Sarah; Hesketh, Kylie D; Campbell, Karen; Manson, Alexandra; Hayes, Alison; Webster, Angela; Wood, Charles; O'Connor, Denise A; Matvienko-Sikar, Karen; Robledo, Kristy; Askie, Lisa; Wolfenden, Luke; Taylor, Rachael; Yin, H Shonna; Brown, Vicki; Fiks, Alexander; Ventura, Alison; Ghaderi, Ata; Taylor, Barry J; Stough, Cathleen; Helle, Christine; Palacios, Cristina; Perrin, Eliana M; Reifsnider, Elizabeth; Rasmussen, Finn; Paul, Ian M; Savage, Jennifer S; Thomson, Jessica; Banna, Jinan; Larsen, Junilla; Joshipura, Kaumudi; Ong, Ken K; Karssen, Levie; Wen, Li Ming; Vitolo, Márcia; Røed, Margrethe; Bryant, Maria; Rivera, Maribel Campos; Messito, Mary Jo; Golova, Natalia; Øverby, Nina Cecilie; Gross, Rachel; Lakshman, Rajalakshmi; Byrne, Rebecca; Rothman, Russell L; O'Reilly, Sharleen; Anzman-Frasca, Stephanie; Verbestel, Vera; Maffeis, Claudio; de la Haye, Kayla; Salvy, Sarah-Jeanne; Mihrshahi, Seema; Ramachandran, Janani; Baratto, Paola Seffrin; Golley, Rebecca K

InAs Nanowire-Based Twin Electrical Sensors Enabling Simultaneous Gas Detection

基于InAs纳米线的双电传感器可实现同步气体检测

Baratto, Camilla; Musaev, Egit; Demontis, Valeria; Luin, Stefano; Zannier, Valentina; Sorba, Lucia; Faglia, Guido; Rovati, Luigi; Rossella, Francesco

Exploratory Analysis of Gut Microbiota Profile in Duchenne Muscular Dystrophy (DMD) Patients with Intellectual Disability

对患有智力障碍的杜氏肌营养不良症(DMD)患者肠道菌群谱的探索性分析

Panicucci, Chiara; Casalini, Sara; Fiorito, Giovanni; Rinaldi, Alessandra Biolcati; Biagioli, Valentina; Cangelosi, Davide; Brolatti, Noemi; Principi, Elisa; Baratto, Serena; Pedemonte, Marina; Morando, Simone; Riva, Antonella; Venturino, Cristina; Striano, Pasquale; Uva, Paolo; Bruno, Claudio

Age estimation of children and adolescents from mandibles using machine learning

利用机器学习根据下颌骨对儿童和青少年的年龄进行估计

Küchler, Erika Calvano; Krohn, Paula Patrícia; Efeiche, Eduarda Gaspari Campos; Antunes, Livia Livia Alves; Abuabara, Allan; de Araujo, Bianca Marques de Mattos; Baratto-Filho, Flares; Beisel-Memmert, Svenja; Kirschneck, Christian; de Araujo, Cristiano Miranda

Invasive haemodynamic assessment in heart failure with preserved ejection fraction

射血分数保留型心力衰竭的侵入性血流动力学评估

Wattanachayakul, Phuuwadith; Kittipibul, Veraprapas; Salah, Husam M; Yaku, Hidenori; Gustafsson, Finn; Baratto, Claudia; Caravita, Sergio; Fudim, Marat

Genetic Deletion of the Purinergic Receptor P2rx7 Worsens the Phenotype of α‑Sarcoglycan Muscular Dystrophy

嘌呤能受体P2rx7基因缺失会加重α-肌聚糖型肌营养不良症的表型

Astigiano, Cecilia; Principi, Elisa; Pintus, Sara; Benzi, Andrea; Baratto, Serena; Panicucci, Chiara; Passalacqua, Mario; Sierra-Marquez, Juan; Nicke, Annette; Antonini, Francesca; Del Zotto, Genny; Cicatiello, Annunziata Gaetana; Raffaghello, Lizzia; Rezzonico Jost, Tanja; Grassi, Fabio; Bruzzone, Santina; Bruno, Claudio; Gazzerro, Elisabetta

Involvement of the gene encoding the collagen type II alpha 1 chain in mandibular mobility

编码II型胶原蛋白α1链的基因参与下颌骨活动度

Cavalcante-Leão, Bianca; Brancher, João Armando; Bertoli, Fernanda; Meger, Michelle Nascimento; Batista, Luisa Helena; Vilalba, Thais; de Menezes-Oliveira, Maria Angélica Hueb; Baratto-Filho, Flares; Kirschneck, Christian; Feltrin-Souza, Juliana; Küchler, Erika Calvano