Lv21
190 积分 2025-09-01 加入
Insights into the genotype-phenotype relationship of ocular manifestations in Kabuki syndrome
4小时前
待确认
Congenital muscular dystrophies in the UK population: Clinical and molecular spectrum of a large cohort diagnosed over a 12-year period
18天前
已完结
Stickler Syndrome Genotype (COL2A1 mutation) with Retinitis Pigmentosa Phenotype
1个月前
已完结
Newborn screening for mucopolysaccharidosis type II: Lessons learned
1个月前
已完结
Combining computational approaches and functional analysis for characterizing the deleterious effect of RHD gene variants on splicing in the Chinese population
2个月前
已完结
Clinical, genetic profile and therapy evaluation of 55 children and 5 adults with sitosterolemia
2个月前
已完结
Molecular Diagnosis of Craniosynostosis Using Targeted Next-Generation Sequencing
3个月前
已关闭
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