Lv12
20 积分 2025-09-26 加入
儿童朗格汉斯细胞组织细胞增生症发病机制研究进展
1天前
待确认
Targeted Therapy in Pediatric Langerhans Cell Histiocytosis: Describing a Novel Strategy to Minimize Long‐Term Exposure While Maintaining Efficacy
1天前
已完结
Trametinib Monotherapy in the Treatment of Pediatric Refractory/Relapse Langerhans Cell Histiocytosis
1天前
已完结
Patient organization perspective: a research roadmap for Okur-Chung Neurodevelopmental Syndrome
8天前
已完结
A Dual Diagnosis of Okur–Chung Neurodevelopmental Syndrome and Becker Muscular Dystrophy: Inquiry Into the Lower Limits of Neurodevelopmental Functioning Attributable to Muscular Dystrophy
8天前
已完结
De novo heterozygous missense and loss‐of‐function variants in CDC42BPB are associated with a neurodevelopmental phenotype
8天前
已完结
Single molecule real time sequencing in ADTKD-MUC1 allows complete assembly of the VNTR and exact positioning of causative mutations
11天前
已完结
Two mutations, one family: C9orf72 and SQSTM1 in neurodegenerative diseases
11天前
已完结
Inborn errors of metabolism: Historical perspectives to contemporary management
15天前
已完结
Prevalence and clinical phenotype of hereditary transthyretin amyloid cardiomyopathy in patients with increased left ventricular wall thickness
19天前
已完结