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

Case report: Functional characterization of a novel CHD7 intronic variant in patients with CHARGE syndrome

病例报告:CHARGE 综合征患者中新型 CHD7 内含子变异的功能特征

Cesare Rossi, Sherin Ramadan, Cecilia Evangelisti, Simona Ferrari, Maria Accadia, Reha M Toydemir, Emanuele Panza

Protein instability associated with AARS1 and MARS1 mutations causes trichothiodystrophy

与 AARS1 和 MARS1 突变相关的蛋白质不稳定性导致毛发硫营养不良

Elena Botta, Arjan F Theil, Anja Raams, Giuseppina Caligiuri, Sarah Giachetti, Silvia Bione, Maria Accadia, Anita Lombardi, Desiree E C Smith, Marisa I Mendes, Sigrid M A Swagemakers, Peter J van der Spek, Gajja S Salomons, Jan H J Hoeijmakers, Dhanya Yesodharan, Sheela Nampoothiri, Tomoo Ogi, Alan

Case report: acute clinical presentation and neonatal management of primary hyperparathyroidism due to a novel CaSR mutation

病例报告:因新型 CaSR 突变导致的原发性甲状旁腺功能亢进症的急性临床表现和新生儿治疗

Manuela Capozza, Iolanda Chinellato, Vito Guarnieri, Natascia Di Lorgi, Maria Accadia, Cristina Traggiai, Girolamo Mattioli, Antonio Di Mauro, Nicola Laforgia