Lv1
40 积分 2023-11-30 加入
Mutational landscape of severe combined immunodeficiency patients from Turkey
10天前
已完结
Anoctamin-5 related muscle disease: clinical and genetic findings in a large European cohort
10天前
已完结
Genetic and Clinical Predictors of Ataxia in Pediatric Primary Mitochondrial Disorders
11天前
已完结
A novel KNL1 intronic splicing variant likely destabilizes the KMN complex, causing primary microcephaly
16天前
已关闭
Epidemiology, genetic etiology and intervention of premature ovarian insufficiency
22天前
已完结
SRPK3 Is Essential for Cognitive and Ocular Development in Humans and Zebrafish, Explaining X‐Linked Intellectual Disability
28天前
已完结
COL4A3 mutations cause focal segmental glomerulosclerosis
28天前
已完结
GABRA1‐Related Disorders: From Genetic to Functional Pathways
1个月前
已完结
LIS1-Related Isolated Lissencephaly
1个月前
已完结
Whole-exome sequencing identifies a novel de novo variant in DYNC1H in a patient with intractable epilepsy
1个月前
已完结
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