Lv1
24 积分 2025-04-29 加入
[Mutation analysis of FLG gene in 10 Chinese families with ichthyosis vulgaris]
16天前
已完结
Mutations in the filaggrin gene in Han Chinese patients with atopic dermatitis
16天前
已完结
Spectrum of neuro‐genetic disorders in the United Arab Emirates national population
21天前
已完结
Phenotypic and genotypic characterization of two factor VII deficiency patients from southeastern China
24天前
已完结
Biallelic SHQ1 variants in early infantile hypotonia and paroxysmal dystonia as the leading manifestation
24天前
已完结
[Phenotype and genotype of twelve Chinese children with mitochondrial DNA depletion syndromes]
25天前
已完结
Spectrum Analysis of Albinism Genes in a Large Cohort of Chinese Index Patients
1个月前
已完结
Genetic analysis of oculocutaneous albinism type 1 (OCA1) in Indian families: two novel frameshift mutations in the TYR Gene
1个月前
已关闭
Contribution of intragenic deletions to mutation spectrum in Chinese patients with Wilson's disease and possible mechanism underlying ATP7B gross deletions
1个月前
已完结
Genotype–phenotype correlations of AR‐CMT2S in a cohort of axonal Charcot–Marie–Tooth patients from Central South China
1个月前
已完结
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