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90 积分 2024-11-12 加入
Netherton syndrome with chromosome 16p11.2 microduplication in a Chinese infant
8个月前
已完结
[Analysis of ACADVL gene variations among nine neonates with very long chain acyl-coA dehydrogenase deficiency]
8个月前
已完结
Compound heterozygosity for missense mutations in the flavin-containing monooxygenase 3 (FMO3) gene in patients with fish-odour syndrome
8个月前
已关闭
Newborn screening for Fabry disease in Oregon: Approaching the iceberg of A143T and variants of uncertain significance
8个月前
已关闭
RNASEH2C c.194G>A is a Chinese‐specific founder mutation in three unrelated patients with Aicardi‐Goutières syndrome 3
8个月前
已完结
Siblings with vitamin D‐dependent rickets type 1A: Importance of genetic testing and a review of genotype–phenotype correlations
8个月前
已完结
A (dis)integrated stress response: Genetic diseases of eIF2α regulators
8个月前
已完结
Genotypic and phenotypic characteristics of juvenile/adult onset vanishing white matter: a series of 14 Chinese patients
8个月前
已完结
Adult-Onset EIF2B-Pathies: A Clinical, Imaging and Genetic Profiling with Literature Review
8个月前
已关闭
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