Lv1
98 积分 2023-06-12 加入
ADGRL1 variants: From developmental and epileptic encephalopathy to genetic epilepsy with febrile seizures plus
1个月前
已完结
Novel insight into TRPV1-induced mitochondrial dysfunction in neuropathic pain
2个月前
已完结
Reply: Age at onset of genetic disease and genetic dependent stage: evidence from cases with SCN1A variants
2个月前
已完结
Exploring unsolved cases of lissencephaly spectrum: integrating exome and genome sequencing for higher diagnostic yield
4个月前
已完结
Unveiling New Clinical and Genetic Insights in Ultra‐Rare Intellectual Disability Phenotypes: A Study of a Turkish Cohort
4个月前
已完结
High Genetic Diagnostic Yield of Whole Exome Sequencing in Children with Epilepsy and Neurodevelopmental Disorders
4个月前
已完结
Axonal Charcot-Marie-Tooth disease due to COQ7 mutation: expanding the genetic and clinical spectrum
5个月前
已完结
Spatial and temporal manipulation of the Scn1a gene affect adult brain function
5个月前
已完结
Biallelic truncating variants in PACSIN3 cause childhood-onset myopathy with hyperCKaemia
5个月前
已完结
Heterozygous Variants in KCNJ10 Cause Paroxysmal Kinesigenic Dyskinesia Via Haploinsufficiency
9个月前
已完结
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