Lv3
320 积分 2024-02-29 加入
Neurodegeneration with brain iron accumulation: Characterization of clinical, radiological, and genetic features of pediatric patients from Southern India
7天前
已完结
[A novel homozygous mutation in PLA2G6 gene causes infantile neuroaxonal dystrophy in a case]
7天前
已完结
FSIP2plays a role in the acrosome development during spermiogenesis
9天前
已完结
Clinical outcome of infantile‐onset inflammatory bowel disease in 102 patients with interleukin‐10 signalling deficiency
18天前
已完结
[Clinical and genotypic characteristics of infantile inflammatory bowel disease]
18天前
已完结
Identification of two novel variants in ALG11 causing congenital disorder of glycosylation
22天前
已完结
[Genotype and phenotype studies on fetuses of 22q11.2 deletion syndrome]
1个月前
已完结
A comprehensive study of mutation and phenotypic heterogeneity of childhood mitochondrial leukodystrophies
1个月前
已完结
High genetic heterogeneity of leukodystrophies in Iranian children: the first report of Iranian Leukodystrophy Registry
1个月前
已完结
[Clinical phenotype and gene analysis of 86 cases of 5 alpha reductase deficiency]
2个月前
已完结
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