Lv3
230 积分 2025-01-19 加入
Genetic overlap between dystonia and other neurologic disorders: A study of 1,100 exomes
1个月前
已完结
Whole-exome sequence analysis of ataxia telangiectasia-like phenotype
1个月前
已完结
Phenotypic spectrum of variants in the beta-oxidation enoyl-CoA hydratase-1 (ECHS-1) gene
1个月前
已完结
[Genetic diagnosis of Duchenne/Becker muscular dystrophy by MLPA]
1个月前
已完结
Measurement of the clinical utility of a combined mutation detection protocol in carriers of Duchenne and Becker muscular dystrophy
2个月前
已完结
Two cases of MEGDHEL syndrome diagnosed with hyperammonemia
2个月前
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
4个月前
已完结
[Novel mutations of GLB1 gene identified in a Chinese pedigree affected with GM1 gangliosidosis]
4个月前
已完结
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