Lv41
490 积分 2023-12-26 加入
Timely diagnosis of sitosterolemia by next generation sequencing in two children with severe hypercholesterolemia
3小时前
已完结
Genetic Screening and Functional Analysis of Thyroid Peroxidase Variants in Chinese Patients with Congenital Hypothyroidism
1个月前
已完结
Screening for mutations in exon 11 of the BRCA1 gene in 70 Italian breast and ovarian cancer patients by protein truncation test
1个月前
已关闭
Molecular diagnosis of Duchenne/Becker muscular dystrophy in Venezuelan patients with the polymerase chain reaction
2个月前
已关闭
[Genetic analysis of 74 fetuses terminated for skeletal dysplasia and evaluation of diagnostic performance of whole exome sequencing]
2个月前
已完结
[Diagnosis of two neonates with galactosemia by using next generation sequencing]
3个月前
已完结
Glutaric aciduria type 1: a review of phenotypic and genetic characteristics
4个月前
已完结
Novel Manifestation of Corneal Dystrophy After Keratorefractive Surgery
5个月前
已完结
Puberty, stress, and sudden death
5个月前
已完结
Clinical, genetic profile and therapy evaluation of 55 children and 5 adults with sitosterolemia
10个月前
已完结
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