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

Impact of Congenital Visual Impairment on Early-Life Exploration: Behavioral Analysis of Temporal and Motor Parameters During a Reach-to-Grasp Playful Task

先天性视觉障碍对早期探索行为的影响:抓握游戏任务中时间参数和运动参数的行为分析

Stefania, Petri; Martina, Riberto; Walter, Setti; Claudio, Campus; Helene, Vitali; Sabrina, Signorini; Francesca, Tinelli; Massimiliano, Serafino; Sandra, Strazzer; Giuseppina, Giammari; Elena, Cocchi; Monica, Gori

Impaired urinary concentration ability is a sensitive predictor of renal disease progression in Joubert syndrome

尿液浓缩能力受损是 Joubert 综合征肾脏疾病进展的敏感预测指标

Sara Nuovo, Laura Fuiano, Alessia Micalizzi, Roberta Battini, Enrico Bertini, Renato Borgatti, Gianluca Caridi, Stefano D'Arrigo, Elisa Fazzi, Rita Fischetto, Gian Marco Ghiggeri, Lucio Giordano, Vincenzo Leuzzi, Romina Romaniello, Sabrina Signorini, Gilda Stringini, Ginevra Zanni, Marta Romani, Enz

New insights into the phenotypic spectrum of 14q22q23 deletions: a case report and literature review

14q22q23缺失表型谱的新见解:病例报告及文献综述

Anna Pichiecchio ,Giovanni Vitale ,Camilla Caporali ,Cecilia Parazzini ,Donatella Milani ,Maria Paola Recalcati ,Laura D'Amico ,Sabrina Signorini ,Umberto Balottin ,Stefano Bastianello

Molecular and clinical characterization of albinism in a large cohort of Italian patients

意大利大量患者白化病的分子和临床特征

Annagiusi Gargiulo, Francesco Testa, Settimio Rossi, Valentina Di Iorio, Simona Fecarotta, Teresa de Berardinis, Antonello Iovine, Adriano Magli, Sabrina Signorini, Elisa Fazzi, Maria Silvana Galantuomo, Maurizio Fossarello, Sandro Montefusco, Alfredo Ciccodicola, Alberto Neri, Claudio Macaluso, Fra