Lv614
2040 积分 2023-09-20 加入
Molecular Diagnostic Yield of Exome Sequencing in Patients With Cerebral Palsy
3小时前
已完结
L-serine treatment in patients with GRIN-related encephalopathy: a phase 2A, non-randomized study
3小时前
已完结
A focus on dominant negative variants in a series of 170 heterozygous FXI‐deficient patients
5天前
已完结
[Clinical characteristics and genetic analysis of three children with Congenital chlorine diarrhea]
5天前
已完结
Variants that get straight to your heart – Cardiogenetic secondary findings in exome sequencing
6天前
已完结
Postmortem genetic analysis of 17 sudden cardiac deaths identified nonsense and frameshift variants in two cases of arrhythmogenic cardiomyopathy
10天前
已完结
Further evidence of the importance of RIT1 in Noonan syndrome
11天前
已完结
Oculo-auriculo-vertebral spectrum: new genes and literature review on a complex disease
11天前
已关闭
Oculo-auriculo-vertebral spectrum: new genes and literature review on a complex disease
11天前
已完结
[Nemaline myopathy as a cause of neonatal hypotonia - with emphasis on personal experiences. Report of a family with two brothers affected]
11天前
已关闭
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