Lv11
58 积分 2026-08-02 加入
Monoallelic variants in BRSK1 are associated with a neurodevelopmental disorder with or without epilepsy
7小时前
已关闭
Yield of Long-Read Genome Sequencing for Rare Disease Diagnosis in Short-Read Genome Negative Cases
11天前
已完结
Monoallelic loss-of-function variants in ZNF536 are associated with a neurodevelopmental disorder with prominent behavioral features
22天前
已完结
Functional properties of a disease mutation for migraine in Kv2.1/6.4 channels
1个月前
已完结
Recurrent seizure-related GRIN1 variant: Molecular mechanism and targeted therapy
1个月前
已完结
Overlapping cortical malformations in patients with pathogenic variants in GRIN1 and GRIN2B
1个月前
已完结
Excitatory GluN1/GluN3A glycine receptors (eGlyRs) in brain signaling
1个月前
已完结
A novel KCNC1 gain‐of‐function variant causing developmental and epileptic encephalopathy: “Precision medicine” approach with fluoxetine
1个月前
已完结
MDM4 HAPLOINSUFFICIENCY LEADS TO P53-MEDIATED BONE MARROW FAILURE
1个月前
已完结
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