Lv4
794 积分 2024-08-07 加入
Characterization of six novel mutations in the methylenetetrahydrofolate reductase (MTHFR) gene in patients with homocystinuria
15小时前
已完结
CYP1B1 mutations in Spanish patients with primary congenital glaucoma: phenotypic and functional variability
17小时前
已关闭
Single amino acid mutations, but not common polymorphisms, decrease the activity of CYP1B1 against (-)benzo[a]pyrene-7R-trans-7,8-dihydrodiol
18小时前
已关闭
Clinico-Radiological and Genotypic Spectrum of Nuclear Mitochondriopathies
4天前
已完结
Clinical and Genetic Analysis of Retinitis Pigmentosa with Primary Angle Closure Glaucoma in the Chinese Population
7天前
已完结
Functional Characterization of a Novel In‐Frame Indel and a Founder Variant in SERPINB7 Associated With Palmoplantar Keratoderma
10天前
已完结
Nagashima‐type palmoplantar keratoderma: Case series and two novel variants
10天前
已完结
Bi-allelic humanTEKT3mutations cause male infertility with oligoasthenoteratozoospermia owing to acrosomal hypoplasia and reduced progressive motility
13天前
已完结
Detection of a Recurrent TMEM38B Gene Deletion Associated with Recessive Osteogenesis Imperfecta
18天前
已完结
Clinical, biochemical, and molecular characterization of mucopolysaccharidosis type III in 34 Egyptian patients
20天前
已完结
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