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110 积分 2024-08-06 加入
High prevalence of thyroid peroxidase gene mutations in patients with thyroid dyshormonogenesis
9小时前
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Molecular basis of thyroid dyshormonogenesis: genetic screening in population-based Japanese patients
9小时前
已完结
The TPO mutation screening and genotype-phenotype analysis in 230 Chinese patients with congenital hypothyroidism
10小时前
已完结
Genetic defects in the cyp21a2 gene in heterozygous girls with premature adrenarche and adolescent females with hyperandrogenemia
1个月前
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SLC26A4 gene is frequently involved in nonsyndromic hearing impairment with enlarged vestibular aqueduct in Caucasian populations
1个月前
已完结
Phenylalanine hydroxylase deficiency in a population in Germany: mutational profile and nine novel mutations
2个月前
已完结
Sequencing of FIC1, BSEP and MDR3 in a large cohort of patients with cholestasis revealed a high number of different genetic variants
2个月前
已完结
Clinical and genetic analysis of the ABCA4 gene associated retinal dystrophy in a large Chinese cohort
4个月前
已完结
USH2A variants in Chinese patients with Usher syndrome type II and non-syndromic retinitis pigmentosa
5个月前
已关闭
Clinical, biochemical, and molecular characterization of mucopolysaccharidosis type III in 34 Egyptian patients
5个月前
已完结
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