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88 积分 2024-05-31 加入
A Case of a Fetus With SETD5 Mutation: Prenatal Phenotype and Literature Review
15天前
已完结
[Clinical manifestations and genetic variation analysis in six Chinese pedigrees affected with Stargardt disease]
3个月前
已完结
Renal dysfunction and barttin expression in Bartter syndrome Type IV associated with a G47R mutation in BSND in a family
8个月前
已关闭
[Pedigree analysis of C19ORF12 p.Asp18Tyr mutation in a family with mitochondrial membrane protein associated neurodegeneration]
9个月前
已完结
Alagille Syndrome: Unraveling the Complexities of Genotype–Phenotype Relationships and Exploring Avenues for Improved Diagnosis and Treatment
9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]
9个月前
已完结
[X-linked Alport syndrome: auditory pathogenic variant features and further genotype-phenotype correlations in female patients]
10个月前
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