Lv3
260 积分 2025-01-19 加入
Two cases of MEGDHEL syndrome diagnosed with hyperammonemia
7小时前
已完结
9q34.3微缺失导致的EHMT1基因全外显子1-27杂合缺失的Kleefstra综合征一例报道
1个月前
已完结
[Novel mutations of GLB1 gene identified in a Chinese pedigree affected with GM1 gangliosidosis]
2个月前
已完结
Hereditary Protein C Deficiency Associated with Mutations in Exon IX of the Protein C Gene
4个月前
已完结
Clinical, genetic profile and therapy evaluation of 55 children and 5 adults with sitosterolemia
4个月前
已完结
Genotype and phenotype correlations in 441 patients with epidermolysis bullosa from China
4个月前
已完结
Retinal detachment, vitreous hemorrhage, and foveal hypoplasia associated with 3q27.1q27.2 microdeletion: a case report
5个月前
已完结
Log-PCR: A New Tool for Immediate and Cost-Effective Diagnosis of up to 85% of Dystrophin Gene Mutations
5个月前
已完结
[Analysis of clinical features, biochemical indices and genetic variants among children with Short/branched-chain acyl-CoA dehydrogenase deficiency detected by neonatal screening]
5个月前
已完结
Exome sequencing identified five novel USH2A variants in Korean patients with retinitis pigmentosa
6个月前
已完结
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