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20 积分 2025-09-12 加入
The Burden of Candidate Pathogenic Variants for Kidney and Genitourinary Disorders Emerging From Exome Sequencing
2个月前
已完结
A boy with cleft palate, hearing impairment, microcephaly, micrognathia and psychomotor retardation and a microdeletion in 6p25.3 involving the DUSP22 gene
4个月前
已关闭
Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left–right asymmetry
4个月前
已完结
[Phenotypic and genotypic analysis of a fetus carrying an intermediate 22q11.2 deletion encompassing the CRKL gene]
5个月前
已完结
喜读《临床皮肤病学》第三版
5个月前
已完结
Genetic classification of ichthyosis
5个月前
已完结
The spectrum of FVIII gene variants detected by next generation sequencing in 236 Chinese non-inversion hemophilia A pedigrees
6个月前
已完结
Novel mutations, pseudo-dominant inheritance, and possible familial affects in patients with autosomal recessive juvenile parkinsonism
6个月前
已完结
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