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30 积分 2024-04-11 加入
SIRT2 counteracts primate cardiac aging via deacetylation of STAT3 that silences CDKN2B
18小时前
待确认
Diagnostic yield with exome sequencing in prenatal severe bilateral ventriculomegaly: a systematic review and meta-analysis
1个月前
已完结
Genetic etiology of agenesis of the corpus callosum: a retrospective single-center cohort analysis of 114 fetuses
1个月前
已完结
Fetal central nervous system anomalies: When should we offer exome sequencing?
1个月前
已完结
CACNA1A haploinsufficiency leads to reduced synaptic function and increased intrinsic excitability
1个月前
已完结
CACNA1A-Related Channelopathies: Clinical Manifestations and Treatment Options
1个月前
已关闭
Phenotype-driven genomics enhance diagnosis in children with unresolved neuromuscular diseases
2个月前
已完结
Fetal phenotype of SLC35A2‐CDG: Enlarged cisterna magna on ultrasound
3个月前
已完结
Novel and recurrent variants in AVPR2 in 19 families with X-linked congenital nephrogenic diabetes insipidus
3个月前
已完结
Novel AVPR2 mutations and clinical characteristics in 28 Chinese families with congenital nephrogenic diabetes insipidus
3个月前
已完结
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