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30 积分 2025-09-12 加入
[Genetic analysis and prenatal diagnosis for a Chinese pedigree affected with Autosomal dominant polycystic kidney disease]
1天前
待确认
Variant Spectrum of Renal Ciliopathies in Turkish Cohort and Genotype–Phenotype Association Specifically in Autosomal Dominant Polycystic Kidney Disease
28天前
已完结
The Burden of Candidate Pathogenic Variants for Kidney and Genitourinary Disorders Emerging From Exome Sequencing
4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
7个月前
已关闭
Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left–right asymmetry
7个月前
已完结
[Phenotypic and genotypic analysis of a fetus carrying an intermediate 22q11.2 deletion encompassing the CRKL gene]
7个月前
已完结
喜读《临床皮肤病学》第三版
7个月前
已完结
Genetic classification of ichthyosis
8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
8个月前
已完结
Novel mutations, pseudo-dominant inheritance, and possible familial affects in patients with autosomal recessive juvenile parkinsonism
9个月前
已完结
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