Lv4
670 积分 2024-07-03 加入
CRB1-associated retinal degeneration is dependent on bacterial translocation from the gut
15天前
已完结
De novo and inherited variants in DDX39B cause a novel neurodevelopmental syndrome
16天前
已完结
Genotype and phenotype spectrum of Charcot-Marie-Tooth disease due to mutations in SORD
16天前
已完结
Dominant rhabdomyolysis linked to a recurrent ATP2A2 variant reducing SERCA2 function in muscle
16天前
已完结
Phenotypic clustering in tuberous sclerosis complex reveals four distinct disease trajectories
16天前
已完结
Explainable multi-frequency and multi-region fusion model for affective brain-computer interfaces
16天前
已完结
Heterozygous RAB3A variants cause cerebellar ataxia by a partial loss-of-function mechanism
16天前
已完结
Characterization of severe COL6-related dystrophy due to the recurrent variant COL6A1 c.930+189C>T
16天前
已完结
SNAP25 variant I67N: synaptic phenotypes, drug response and proteome changes in human neurons
16天前
已完结
Synaptic dysregulation in a mouse model of GRIN2D developmental and epileptic encephalopathy
16天前
已完结
高龄老年(≥75岁)急性冠状动脉综合征患者规范化诊疗中国专家共识
1年前
已采纳
产前筛查与诊断的质量控制与热点问题
1年前
已采纳
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