Lv11
48 积分 2025-03-06 加入
Further delineation of short-chain enoyl-CoA hydratase deficiency in the Pacific population
14天前
已完结
Strategic validation of variants of uncertain significance in ECHS1 genetic testing
18天前
已完结
Clinical, metabolic, and genetic characteristics of 42 children with mitochondrial short-chain enoyl-CoA hydratase 1 deficiency in China
18天前
已完结
Congenital myasthenic syndromes by Epsilon subunit mutations: Phenotypic profiles of 17 Algerian families
1个月前
已完结
Severe congenital myasthenic syndrome due to homozygosity of the 1293insG epsilon-acetylcholine receptor subunit mutation
1个月前
已完结
[Clinical phenotype and gene analysis of 86 cases of 5 alpha reductase deficiency]
2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
Systematic ophthalmologic evaluation in cardio‐facio‐cutaneous syndrome: A genotype–endophenotype correlation
2个月前
已完结
Severe hemolytic anemia in a newborn: Look out for rare Gardos channelopathies due to KCNN4 mutation
2个月前
已完结
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