Lv31
250 积分 2025-06-09 加入
Clinical and genetic analysis of the ABCA4 gene associated retinal dystrophy in a large Chinese cohort
2天前
已完结
Mutation spectrum of the NF1 gene and genotype–phenotype correlations in Turkish patients: Seventeen novel pathogenic variants
10天前
已完结
Phenotype-Genotype Analysis Based on Molecular Classification in 135 Children With Mitochondrial Disease
20天前
已完结
Genotype and phenotype characteristics of West syndrome in 20 Vietnamese children: Two novel variants detected by next-generation sequencing
20天前
已完结
Acute inflammatory demyelinating polyradiculoneuropathy associated with perforin-deficient familial haemophagocytic lymphohistiocytosis
1个月前
已完结
Genetic analysis of osteogenesis imperfecta in a large Brazilian cohort
1个月前
已完结
A Two-Base Pair Deletion in IQ Repeats in ASPM Underlies Microcephaly in a Pakistani Family
1个月前
已完结
Biallelic variants in ZFP36L2 cause female infertility characterised by recurrent preimplantation embryo arrest
1个月前
已完结
A recurrent homozygous LMNA missense variant p.Thr528Met causes atypical progeroid syndrome characterized by mandibuloacral dysostosis, severe muscular dystrophy, and skeletal deformities
2个月前
已完结
[DARS mutations responsible for hypomyelination with brain stem and spinal cord involvement and leg spasticity: report of two cases and review of literature]
4个月前
已完结
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