Lv2
120 积分 2025-02-13 加入
Genetic and clinical screening for hereditary primary hyperparathyroidism in a large Chinese cohort: a single‐center study
8天前
已完结
Development of a molecular diagnostic test for Retinitis Pigmentosa in the Japanese population
21天前
已关闭
Development of a molecular diagnostic test for Retinitis Pigmentosa in the Japanese population
21天前
已关闭
Good prognosis of adult hemophagocytic lymphohistiocytosis associated with the germline HAVCR2 mutation
23天前
已完结
Hereditary Severe Insulin-resistance Syndrome and Acanthosis Nigricans Caused by Novel Mutations in the INSR Gene
28天前
已完结
Genetic and clinical findings in a Chinese cohort with Leber congenital amaurosis and early onset severe retinal dystrophy
30天前
已完结
Mutational and clinical spectrum of centronuclear myopathy in 9 cases and a literature review of Chinese patients
1个月前
已完结
[Clinical and genetic analysis for a Joubert syndrome family with CC2D2A gene mutations]
1个月前
已完结
Biallelic Variants in Lanosterol Synthase (LSS) Cause Palmoplantar Keratoderma-Congenital Alopecia Syndrome Type 2
2个月前
已完结
Palmoplantar keratoderma: a new phenotype in patients with hypotrichosis resulted from lanosterol synthase gene mutations
2个月前
已完结
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