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MEF2C基因1~3号外显子缺失致5q14.3微缺失综合征患儿的分子遗传学分析
58分钟前
已完结
Comparative analysis of clinical phenotypes and genetic characteristics in MEF2C-associated neurodevelopmental disorders
2天前
求助中
5q14.3 Microdeletion Syndrome With Simultaneous Involvement of MEF2C and RASA1. Clinical Case and Review of the Literature
2天前
已完结
De Novo Chromosomes 3q and 5q Chromothripsis Leads to a 5q14.3 Microdeletion Syndrome Presentation: Case Report and Review of the Literature
2天前
已完结
Genetic therapeutic advancements for Dravet Syndrome
27天前
已完结
State-of-the-art management of Dravet syndrome
27天前
已完结
Revisiting X-linked congenital ichthyosis
1个月前
已完结
Exploring the Clinical Spectrum of HUWE1 -Related Neurodevelopmental Disorder: Five New Patients and Literature Review
2个月前
已完结
家族性DUOX2基因突变胎儿甲状腺肿和甲状腺功能减退症诊断与治疗1例
2个月前
已完结
SLC9A7基因变异所致X连锁精神发育迟滞1例患儿的临床特征及遗传学分析
2个月前
已完结
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