Lv31
320 积分 2024-01-30 加入
Exome sequencing identifies genes associated with sleep-related traits
4小时前
已完结
Evaluating next-generation sequencing in neuromuscular diseases with neonatal respiratory distress
2个月前
已完结
Genetic analysis and identification of novel variations in Chinese patients with pediatric epilepsy by whole-exome sequencing
2个月前
已完结
[Consensus statement on neonatal screening, diagnosis and treatment for glucose-6-phosphate dehydrogenase deficiency]
3个月前
已完结
Transthyretin-related familial amyloid polyneuropathy (ATTR-FAP) in Poland — genetic and clinical presentation
3个月前
已完结
[Analysis of molecular pathogenesis and clinical phenotypes in 10 probands with inherited fibrinogen deficiency]
4个月前
已完结
A de novo GABRB2 variant associated with myoclonic status epilepticus and rhythmic high‐amplitude delta with superimposed (poly) spikes (RHADS)
5个月前
已完结
Ictus criptogénico en un paciente joven con cardiopatía y fallo renal
5个月前
已关闭
Detection of common sequence variations of familial hypercholesterolemia in Taiwan using DNA mass spectrometry
6个月前
已完结
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