Lv11
56 积分 2024-10-30 加入
A Collection of Patient-Derived Intestinal Organoid Lines Reveals Epithelial Phenotypes Associated with Genetic Drivers of Pediatric Inflammatory Bowel Disease
7小时前
待确认
Desmoplastic Small Round Cell Tumor Involving Serous Fluid: Cytologic Features and Diagnostic Pitfalls: A Series of 8 Cases
8个月前
已关闭
The epileptology of Wiedemann-Steiner syndrome: Electroclinical findings in five patients with KMT2A pathogenic variants
9个月前
已完结
Wiedemann-Steiner syndrome: Novel pathogenic variant and review of literature
9个月前
已完结
Wiedemann‐Steiner syndrome in two patients from Portugal
9个月前
已完结
Wiedemann‐Steiner syndrome as a major cause of syndromic intellectual disability: A study of 33 French cases
9个月前
已完结
Wiedemann-Steiner syndrome: Novel pathogenic variant and review of literature
10个月前
已完结
Delineation of clinical features in Wiedemann–Steiner syndrome caused by KMT2A mutations
10个月前
已完结
A de novo HK1 Variant in a Boy Fulfilling the Diagnostic Criteria for Tuberous Sclerosis Complex: Expanding the Phenotypic Spectrum of NEDVIBA
10个月前
已完结
Identification of a Novel FGFR2 Gene Mutation (c.514_515delinsCT, p.Ala172Leu) in a Chinese Neonate With Apert Syndrome: A Case Report
10个月前
已完结
皖公网安备34019202002308
