Lv11
50 积分 2021-05-20 加入
Integrated Genotyping Strategies for Uncovering Detailed Haplotype Structures and Characterization of DMD Duplications
1小时前
待确认
Terminal 6q deletions cause brain malformations, a phenotype mimicking heterozygous DLL1 pathogenic variants: A multicenter retrospective case series
17天前
已完结
LRP5 BIALLELIC MUTATIONS CAUSE A HIGHER INCIDENCE OF SEVERE PHENOTYPE COMPARED WITH LRP5 MONOALLELIC MUTATION
1个月前
已完结
Ophthalmic findings in Alström syndrome
1个月前
已完结
Thymidine Phosphorylase Gene Mutations in MNGIE, a Human Mitochondrial Disorder
1个月前
已完结
Mitochondrial neurogastrointestinal encephalomyopathy: an autosomal recessive disorder due to thymidine phosphorylase mutations
1个月前
已关闭
Spectrum Analysis of Albinism Genes in a Large Cohort of Chinese Index Patients
3个月前
已完结
Close relationship, similar phenotype of GATA4 and NR5A1 mutations: gonadal dysgenesis and puberty development
3个月前
已完结
Defective IL10 Signaling Defining a Subgroup of Patients With Inflammatory Bowel Disease
3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
4个月前
已关闭
Severe Cardiovascular Sequelae in Adults After Kawasaki Disease
皖公网安备34019202002308
