Lv11
60 积分 2025-01-07 加入
X-linked adrenoleukodystrophy in women: a cross-sectional cohort study
2小时前
待确认
Novel ABCD1 gene mutations in Iranian pedigrees with X-linked adrenoleukodystrophy
2小时前
已完结
Dual Oxidase System Genes Defects in Children With Congenital Hypothyroidism
4天前
已完结
Spectrum Analysis of Albinism Genes in a Large Cohort of Chinese Index Patients
4天前
已完结
Germline mutations in the von Hippel-Lindau disease tumor suppressor gene: Correlations with phenotype
13天前
已完结
Speech and language in DDX3X‐neurodevelopmental disorder: A call for early augmentative and alternative communication intervention
20天前
已关闭
Neurodegeneration with brain iron accumulation: Characterization of clinical, radiological, and genetic features of pediatric patients from Southern India
22天前
已完结
X-linked sideroblastic anemia in females
25天前
已完结
Fetal Brain MRI Abnormalities in Pyruvate Dehydrogenase Complex Deficiency
28天前
已完结
Spectrum of neurological and survival outcomes in pyruvate dehydrogenase complex (PDC) deficiency: Lack of correlation with genotype
29天前
已完结