Lv12
58 积分 2023-06-12 加入
Age at onset of genetic disease and genetic dependent stage: evidence from cases with SCN1A variants
5小时前
待确认
Deciphering DST-associated disorders: biallelic variants affecting DST-b cause a congenital myopathy
10天前
已完结
Loss of DOT1L function disrupts neuronal transcription, animal behavior, and leads to a novel neurodevelopmental disorder
10天前
已关闭
Biallelic LGI1 and ADAM23 variants cause hippocampal epileptic encephalopathy via the LGI1–ADAM22/23 pathway
19天前
已完结
De novo and inherited variants in DDX39B cause a novel neurodevelopmental syndrome
30天前
已完结
Variants in BSN, encoding the presynaptic protein Bassoon, result in a distinct neurodevelopmental disorder with a broad phenotypic range
1个月前
已完结
ADGRL1 variants: From developmental and epileptic encephalopathy to genetic epilepsy with febrile seizures plus
3个月前
已完结
Novel insight into TRPV1-induced mitochondrial dysfunction in neuropathic pain
4个月前
已完结
Reply: Age at onset of genetic disease and genetic dependent stage: evidence from cases with SCN1A variants
4个月前
已完结
Exploring unsolved cases of lissencephaly spectrum: integrating exome and genome sequencing for higher diagnostic yield
5个月前
已完结
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