Lv1
40 积分 2025-02-08 加入
Type 1 Gaucher disease presenting with extensive mandibular lytic lesions: Identification and expression of a novel acid ?-glucosidase mutation
5小时前
待确认
The Genomic and Phenotypic Landscape of Ichthyosis
2个月前
已完结
Revisiting pachyonychia congenita: a case‐cohort study of 815 patients
2个月前
已关闭
Clinical and radiologic evaluation of a Turkish family with hypochondroplasia and a rare FGFR3 variant
2个月前
已完结
A study of the clinical and radiological features in a cohort of 93 patients with a COL2A1 mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype
2个月前
已完结
Expanding the Phenotypic Spectrum of TRAF7-Related Cardiac, Facial, and Digital Anomalies With Developmental Delay: Report of 11 New Cases and Literature Review
2个月前
已完结
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