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308 积分 2023-04-18 加入
这个人很懒而且没什么存在感
Clinical and genetic characteristics of RANBP2 mutations in children with acute necrotizing encephalopathy
17天前
已完结
A novel mutation in MYCN gene causing congenital absence of the flexor pollicis longus tendon as an unusual presentation of Feingold syndrome 1
2个月前
已完结
GRIN2B基因变异相关儿童神经系统发育异常临床特点和基因分析
2个月前
已完结
Marked yield of re‐evaluating phenotype and exome/target sequencing data in 33 individuals with intellectual disabilities
2个月前
已关闭
A family with X‐linked Alport syndrome confirmed by skin biopsy
3个月前
已关闭
Focal dermal hypoplasia (goltz–gorlin syndrome): A new case with a novel variant in the PORCN gene (c.1250T>C:p.F417S) and unusual spinal anomaly
3个月前
已完结
A point mutation of the T3 receptor β1 gene in a kindred of generalized resistance to thyroid hormone
3个月前
已关闭
[Chinese expert consensus statement on the classification and interpretation of variants in genes associated with common inherited cardiovascular diseases]
4个月前
已完结
Clinical exome sequencing findings in 1589 patients
4个月前
已完结
Clinical exome sequencing findings in 1589 patients
4个月前
已完结
非小细胞肺癌MET临床检测中国专家共识
1年前
已撤回
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