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

Bi-allelic variants in FSD1L cause a neurodevelopmental disorder overlapping with L1 syndrome

FSD1L基因的双等位基因变异会导致一种与L1综合征症状重叠的神经发育障碍。

Serpieri, Valentina; Vezain-Mouchard, Myriam; Orsi, Alessia; Lecointre, Maryline; Mazzotta, Concetta; Marguet, Florent; Garbelli, Anna; Marcorelles, Pascale; Celli, Ludovica; Goldenberg, Alice; De Mori, Roberta; Drouot, Nathalie; Petrizzelli, Francesco; Janin, François; Nicolas, Gaël; Smal, Noor; Condoluci, Claudia; Marini, Carla; Tran-Mau-Them, Frederic; Ruault, Valentin; Micalizzi, Alessia; Bione, Silvia; Mazza, Tommaso; Pichiecchio, Anna; Ginevrino, Monia; Weckhuysen, Sarah; Bedois, Alice; Desnous, Béatrice; Hermitte, Laurent; Rabie, Grace; Kanaan, Moien; Gonzalez, Bruno J; Sabbioneda, Simone; Laquerrière, Annie; Saugier-Veber, Pascale; Valente, Enza Maria

The Avian-RUM Block: A Locoregional Technique for Distal Wing Procedures in Birds-An Anatomical Cadaveric Feasibility Study with a Clinical Illustration

禽类RUM阻滞:一种用于鸟类远端翼部手术的局部区域麻醉技术——基于解剖尸体可行性研究及临床实例

Serpieri, Matteo; Bonaffini, Giuseppe; Passarino, Elena; de Silva, Margherita; Quaranta, Giuseppe; Mauthe von Degerfeld, Mitzy

Ultrasound-Guided Mandibular Alveolar Nerve Block in Rabbits: A Cadaveric Comparison of In-Plane and Out-of-Plane Approaches

超声引导下兔下颌牙槽神经阻滞术:平面内入路与平面外入路的尸体比较

Serpieri, Matteo; Degiovanni, Andrea; Bonaffini, Giuseppe; Passarino, Elena; Quaranta, Giuseppe; Mauthe von Degerfeld, Mitzy

Missense Variants in the Second Transmembrane Domain of TMEM17 Disrupt Its Stability and Function and Lead to a Wide Phenotypic Spectrum of Ciliopathies

TMEM17第二个跨膜结构域的错义变异会破坏其稳定性和功能,并导致广泛的纤毛病表型谱。

Boutaud, Lucile; Li, Chunmei; Moncler, Candice; Verlin, Laure; Garfa-Traoré, Meriem; Bourgon, Nicolas; Akbari, Dhruvin; Porée, Jeanne; Serpieri, Valentina; Panza, Marine; Haddad, Lynda; Nitschké, Patrick; Aziza, Jacqueline; Matt, Cristina; Valente, Enza Maria; Gargallo, Patricia; Dubucs, Charlotte; Attié-Bitach, Tania; Leroux, Michel R; Thomas, Sophie

A differential requirement for ciliary transition zone proteins in human and mouse neural progenitor fate specification.

人类和小鼠神经祖细胞命运决定中对纤毛过渡区蛋白的不同需求

Wiegering Antonia, Anselme Isabelle, Brunetti Ludovica, Metayer-Derout Laura, Calderon Damelys, Thomas Sophie, Nedelec Stéphane, Eschstruth Alexis, Serpieri Valentina, Catala Martin, Antoniewski Christophe, Schneider-Maunoury Sylvie, Stedman Aline

Pathogenic cryptic variants detectable through exome data reanalysis significantly increase the diagnostic yield in Joubert syndrome

通过外显子组数据重新分析检测到的致病性隐匿变异显著提高了Joubert综合征的诊断率。

D'Abrusco, Fulvio; Serpieri, Valentina; Taccagni, Cecilia Maria; Garau, Jessica; Cattaneo, Luca; Boggioni, Monica; Gana, Simone; Battini, Roberta; Bertini, Enrico; Zanni, Ginevra; Boltshauser, Eugen; Borgatti, Renato; Romaniello, Romina; Signorini, Sabrina; Leuzzi, Vincenzo; Caputi, Caterina; Manti, Filippo; D'Arrigo, Stefano; De Laurentiis, Arianna; Graziano, Claudio; Lemke, Johannes R; Morelli, Federica; Petković Ramadža, Danijela; Sirchia, Fabio; Giorgio, Elisa; Valente, Enza Maria

Further evidence of RNU4ATAC variants causing Joubert syndrome with skeletal involvement

进一步证据表明,RNU4ATAC 变异可导致伴有骨骼受累的 Joubert 综合征。

D'Abrusco, Fulvio; Gana, Simone; Alfei, Enrico; Scarano, Emanuela; Nicita, Francesco; Bertini, Enrico Silvio; Digilio, Maria Cristina; Zanni, Ginevra; Barbuti, Domenico; Carlicchi, Eleonora; Pichiecchio, Anna; D'Arrigo, Stefano; Serpieri, Valentina; Valente, Enza Maria

Case Report: Extracorporeal photopheresis for BK virus nephropathy as a novel treatment for high-risk rejection kidney transplant recipient

病例报告:体外光疗作为治疗BK病毒肾病的一种新型疗法,尤其适用于高风险排斥反应的肾移植受者

Gregorini, Marilena; Del Fante, Claudia; Islami, Tefik; Grignano, Maria Antonietta; Serpieri, Nicoletta; Perotti, Cesare; Viarengo, Gianluca; Locurcio, Alessia; Lanotte, Giuseppe; Tragni, Alessandro; Stea, Emma Diletta; Martinelli, Chiara; Marchi, Alessandro; Portalupi, Valentina; De Mauri, Andreana; Margiotta, Elisabetta; Pattonieri, Eleonora Francesca; Soccio, Grazia; Rampino, Teresa

Comparison between Carprofen and Meloxicam for Post-Neutering Pain Management in Pet Rabbits

卡洛芬与美洛昔康在宠物兔绝育术后镇痛中的比较

Serpieri, Matteo; Ottino, Chiara; Bonaffini, Giuseppe; Banchi, Penelope; Quaranta, Giuseppe; Mauthe von Degerfeld, Mitzy

Conservative treatment of a synovial cyst in a golden eagle (Aquila chrysaetos) with triamcinolone acetonide

使用曲安奈德对金雕(Aquila chrysaetos)的滑膜囊肿进行保守治疗

Serpieri, Matteo; Bonaffini, Giuseppe; Ottino, Chiara; Quaranta, Giuseppe; Manassero, Luca; Mauthe VON Degerfeld, Mitzy