Lv1
10 积分 2021-05-22 加入
A novel homozygous PIGO mutation associated with severe infantile epileptic encephalopathy, profound developmental delay and psychomotor retardation: structural and 3D modelling investigations and genotype–phenotype correlation
2小时前
待确认
[Iatrogenic rhabdomyolysis and hypothyroidism revealing Sheehan's syndrome]
1个月前
已关闭
Incidence, prevalence, and global burden of autism spectrum disorder from 1990 to 2019 across 204 countries
1个月前
已完结
Myoglobinopathy affecting facial and oropharyngeal muscles
2个月前
已完结
Potassium channels and epilepsy
3个月前
已完结
Clinical Validation and Diagnostic Utility of Optical Genome Mapping in Prenatal Diagnostic Testing
3个月前
已完结
Encephalopathy with Guillain-Barré syndrome: seek a different cause
3个月前
已完结
Aplasia of cochlear nerves and olfactory bulbs in association withSOX10mutation
7个月前
已完结
Analysis of the human SOX10 mutation Q377X in mice and its implications for genotype-phenotype correlation in SOX10-related human disease
7个月前
已关闭
CELSR1 variants are associated with partial epilepsy of childhood
7个月前
已完结
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