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38 积分 2025-02-08 加入
Perampanel therapy for intractable GRIN2D-related developmental and epileptic encephalopathy: A case report and literature review
5天前
已完结
Dystonia Linked to EIF4A2 Haploinsufficiency: A Disorder of Protein Translation Dysfunction
24天前
已完结
Early Prenatal Detection of Recessive Split-hand/Foot Malformation Caused by a Homozygous Variant of WNT10B
2个月前
已关闭
Strategic validation of variants of uncertain significance in ECHS1 genetic testing
2个月前
已完结
5q14.3 Microdeletion Syndrome With Simultaneous Involvement of MEF2C and RASA1. Clinical Case and Review of the Literature
5个月前
已完结
Genotype-Phenotype Correlations in Chronic Granulomatous Disease: Insights From a Large National Cohort
6个月前
已完结
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