Lv1
20 积分 2021-05-20 加入
Ophthalmic findings in Alström syndrome
2小时前
已完结
Thymidine Phosphorylase Gene Mutations in MNGIE, a Human Mitochondrial Disorder
3小时前
已完结
Mitochondrial neurogastrointestinal encephalomyopathy: an autosomal recessive disorder due to thymidine phosphorylase mutations
3小时前
求助中
Spectrum Analysis of Albinism Genes in a Large Cohort of Chinese Index Patients
1个月前
已完结
Close relationship, similar phenotype of GATA4 and NR5A1 mutations: gonadal dysgenesis and puberty development
1个月前
已完结
Defective IL10 Signaling Defining a Subgroup of Patients With Inflammatory Bowel Disease
2个月前
已完结
Screening of TYR, OCA2, GPR143, and MC1R in patients with congenital nystagmus, macular hypoplasia, and fundus hypopigmentation indicating albinism
2个月前
已关闭
Mutation spectrum of genes associated with steroid-resistant nephrotic syndrome in Chinese children
2个月前
已完结
Whole-exome Sequencing Screening for Candidate Genes and Variants Associated with Primary Sporadic Keratoconus in Chinese Patients
2个月前
已完结
A FSHR missense variant associated with polycystic ovary syndrome in an Iranian family with multiple affected sisters
2个月前
已完结
Severe Cardiovascular Sequelae in Adults After Kawasaki Disease
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