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78 积分 2024-05-31 加入
Renal dysfunction and barttin expression in Bartter syndrome Type IV associated with a G47R mutation in BSND in a family
3个月前
已关闭
[Pedigree analysis of C19ORF12 p.Asp18Tyr mutation in a family with mitochondrial membrane protein associated neurodegeneration]
4个月前
已完结
Alagille Syndrome: Unraveling the Complexities of Genotype–Phenotype Relationships and Exploring Avenues for Improved Diagnosis and Treatment
4个月前
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]
4个月前
已完结
[X-linked Alport syndrome: auditory pathogenic variant features and further genotype-phenotype correlations in female patients]
4个月前
已关闭
Molecular Correlations in Phenylketonuria: Mutation Patterns and Corresponding Biochemical and Clinical Phenotypes in a Heterogeneous California Population
5个月前
已完结
Functional study of a rare L1CAM gene c.1759G>C variant prove its pathogenicity
5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
6个月前
已完结
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