Lv11
28 积分 2024-05-31 加入
[Pedigree analysis of C19ORF12 p.Asp18Tyr mutation in a family with mitochondrial membrane protein associated neurodegeneration]
53分钟前
已完结
Alagille Syndrome: Unraveling the Complexities of Genotype–Phenotype Relationships and Exploring Avenues for Improved Diagnosis and Treatment
1小时前
已完结
[Clinical features of dilated cardiomyopathy-like hypertrophic cardiomyopathy caused by a 13261 G > A mutation in cardiac myosin-binding protein C gene]
20天前
已完结
[X-linked Alport syndrome: auditory pathogenic variant features and further genotype-phenotype correlations in female patients]
22天前
已关闭
Molecular Correlations in Phenylketonuria: Mutation Patterns and Corresponding Biochemical and Clinical Phenotypes in a Heterogeneous California Population
1个月前
已完结
Functional study of a rare L1CAM gene c.1759G>C variant prove its pathogenicity
1个月前
已完结
Spectrum of MECP2 gene mutations in a cohort of Indian patients with Rett syndrome: Report of two novel mutations
1个月前
已完结
Rising of LOXHD1 as a signature causative gene of down-sloping hearing loss in people in their teens and 20s
2个月前
已完结
Molecular genetics and impact of residual in vitro phenylalanine hydroxylase activity on tetrahydrobiopterin responsiveness in Turkish PKU population
2个月前
已关闭
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