Lv5
990 积分 2023-08-21 加入
Pseudogene‐derived IKBKG gene mutations in incontinentia pigmenti
5天前
已完结
[Six novel mutations in PAH gene detected by sequencing]
5天前
已关闭
Protein-losing enteropathy as a new phenotype in atypical hemolytic uremic syndrome caused by CD46 gene mutation
10天前
已完结
Childhood-Onset Hereditary Spastic Paraplegia (HSP): A Case Series and Review of Literature
10天前
已完结
Spectrum of HBB gene mutations among 696 β–thalassemia patients and carriers in Southern Vietnam
1个月前
已关闭
[Analysis of GALNS gene mutation in thirty-eight Chinese patients with mucopolysaccharidosis type IVA]
1个月前
已完结
Leber Congenital Amaurosis–A Model for Efficient Genetic Testing of Heterogeneous Disorders: LXIV Edward Jackson Memorial Lecture
1个月前
已关闭
Tuberous sclerosis complex: Clinical, genetic and 7T-MRI neuroimaging findings
1个月前
已完结
An APEX-based genotyping microarray for the screening of 168 mutations associated with familial hypercholesterolemia
1个月前
已完结
[DUOX2 gene mutation in patients with congenital goiter with hypothyroidism]
8个月前
已关闭
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