Lv4
406 积分 2025-02-13 加入
[Identification of a missense mutation in SEDL gene from a Chinese family with X-linked spondyloepiphyseal dysplasia tarda]
18小时前
求助中
Biochemical consequences of sedlin mutations that cause spondyloepiphyseal dysplasia tarda
18小时前
已完结
Dyskeratosis congenita associated with a novel missense variant in TERT: Approach for the dermatologists
20小时前
已完结
[Expansion of the genotypic and phenotypic spectrum and treatment of four children with Steroid-resistant nephrotic syndrome due to variants of TRPC6 gene]
1个月前
已完结
Nurse Practitioner and Physician Assistant Satellite Health Centers
1个月前
已完结
Cushing’s syndrome caused by nodular adrenal hyperplasia in children with McCune-Albright syndrome
1个月前
已完结
Clinical, genetic profile and therapy evaluation of 55 children and 5 adults with sitosterolemia
1个月前
已完结
Oligogenic familial hypercholesterolemia, LDL cholesterol, and coronary artery disease
1个月前
已完结
Clinical, Genotypic, and Imaging Characterization of the Spectrum of ABCA4 Retinopathies
6个月前
已完结
Clinical, Genotypic, and Imaging Characterization of the Spectrum of ABCA4 Retinopathies
6个月前
已完结
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