Lv55
1330 积分 2025-05-19 加入
Preliminary observations on phenotypic differences between complete and partial globozoospermia
3小时前
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Long-term evolution of eight Spanish patients with CDG type Ia: typical and atypical manifestations
1天前
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A DNA resequencing array for pathogenic mutation detection in hypertrophic cardiomyopathy
5天前
已完结
Novel Missense Variant in MYL2 Gene Associated With Hypertrophic Cardiomyopathy Showing High Incidence of Restrictive Physiology
5天前
已完结
Early Macular Retinal Ganglion Cell Loss in Dominant Optic Atrophy: Genotype-Phenotype Correlation
6天前
已完结
Mouse models of dominant optic atrophy: What do they tell us about the pathophysiology of visual loss?
6天前
已完结
OPA1 mutations in patients with autosomal dominant optic atrophy and evidence for semi-dominant inheritance
6天前
已完结
Whole-exome sequencing for the genetic diagnosis of congenital red blood cell membrane disorders in Taiwan
7天前
已完结
Mutational spectrum of the CTNS gene in Italy
8天前
已完结
Duchenne muscular dystrophy diagnosis using fibroblast‐derived myotube cells
12天前
已完结