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10 积分 2023-04-08 加入
Novel TMEM53 missense variant generated a new ubiquitination site and cause Craniotubular dysplasia, Ikegawa type
7小时前
求助中
Multiple molecular diagnoses in the field of intellectual disability and congenital anomalies: 3.5% of all positive cases
3个月前
已完结
Han family with essential tremor caused by the P421L variant of the TENM4 gene in China
4个月前
已完结
Mutation spectrum and genotype–phenotype correlations in 157 Korean CADASIL patients: a multicenter study
6个月前
已完结
小头畸形-骨发育不良-原基性侏儒症Ⅱ型家系的临床及遗传学分析
11个月前
已完结
IRF2BPL gene mutation: Expanding on neurologic phenotypes
2年前
已完结
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