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

Assessment of copy number variations in 120 patients with Poland syndrome

对120例波兰综合征患者的拷贝数变异进行评估

Vaccari, Carlotta Maria; Tassano, Elisa; Torre, Michele; Gimelli, Stefania; Divizia, Maria Teresa; Romanini, Maria Victoria; Bossi, Simone; Musante, Ilaria; Valle, Maura; Senes, Filippo; Catena, Nunzio; Bedeschi, Maria Francesca; Baban, Anwar; Calevo, Maria Grazia; Acquaviva, Massimo; Lerone, Margherita; Ravazzolo, Roberto; Puliti, Aldamaria

Clinical and molecular characterization of a patient with interstitial 6q21q22.1 deletion

对一名患有间质性 6q21q22.1 缺失的患者的临床和分子特征进行分析

Tassano, Elisa; Mirabelli-Badenier, Marisol; Veneselli, Edvige; Puliti, Aldamaria; Lerone, Margherita; Vaccari, Carlotta Maria; Morana, Giovanni; Porta, Simona; Gimelli, Giorgio; Cuoco, Cristina

De novo deletion of chromosome 11q12.3 in monozygotic twins affected by Poland Syndrome

波兰综合征同卵双胞胎中11q12.3染色体的新生缺失

Vaccari, Carlotta Maria; Romanini, Maria Victoria; Musante, Ilaria; Tassano, Elisa; Gimelli, Stefania; Divizia, Maria Teresa; Torre, Michele; Morovic, Carmen Gloria; Lerone, Margherita; Ravazzolo, Roberto; Puliti, Aldamaria

Albuminuria and glomerular damage in mice lacking the metabotropic glutamate receptor 1.

缺乏代谢型谷氨酸受体 1 的小鼠出现蛋白尿和肾小球损伤

Puliti Aldamaria, Rossi Pia Irene Anna, Caridi Gianluca, Corbelli Alessandro, Ikehata Masami, Armelloni Silvia, Li Min, Zennaro Cristina, Conti Valerio, Vaccari Carlotta Maria, Cassanello Michela, Calevo Maria Grazia, Emionite Laura, Ravazzolo Roberto, Rastaldi Maria Pia