Lv3
370 积分 2025-01-11 加入
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Clinical and genetic characterization of congenital hyperinsulinism in Spain
2小时前
待确认
Angioarchitecture and genetic variants of spinal cord cavernous malformations and associated developmental venous anomalies: a case report
1天前
已完结
Mutation spectrum of amyotrophic lateral sclerosis in Central South China
11天前
已完结
Extensive molecular genetic survey of Taiwanese patients with amyotrophic lateral sclerosis
15天前
已完结
Clinical, biochemical, and molecular diagnosis of a free sialic acid storage disease patient of moderate severity
20天前
已完结
Phenotypic heterogeneity of the 8344A>G mtDNA "MERRF" mutation
20天前
已完结
Characterising the phenotype and mode of inheritance of patients with inherited peripheral neuropathies carrying MME mutations
20天前
已完结
RNASEH2C c.194G>A is a Chinese-specific founder mutation in three unrelated patients with Aicardi-Goutières syndrome 3
22天前
已完结
Molecular insights into the mechanism of nonrecurrent F8 structural variants: Full breakpoint characterization and bioinformatics of DNA elements implicated in the upmost severe phenotype in hemophilia A
25天前
已完结
Characterising the phenotype and mode of inheritance of patients with inherited peripheral neuropathies carrying MME mutations
25天前
已完结
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