Lv7
3230 积分 2022-11-01 加入
Clinical features of cerebral cavernous malformations patients with KRIT1 mutations
4天前
已完结
USH2A variants in Chinese patients with Usher syndrome type II and non-syndromic retinitis pigmentosa
8天前
已关闭
Familial neurohypophyseal diabetes insipidus in 13 kindreds and 2 novel mutations in the vasopressin gene
1个月前
已完结
Genetic Study of Fanconi Anemia in Infancy Revealed FANCI Mutations and Defective ALDH2 Variant: A Case Report
1个月前
已完结
Targeted next‐generation sequencing in a large series of fetuses with severe renal diseases
1个月前
已完结
Truncating mutations in BBS10 and BBS12 impair proteostasis and ciliary architecture in Bardet-Biedl Syndrome
1个月前
已完结
Genotype and Phenotype Characteristics of 58 Cases of Mitochondrial Epilepsy with Nuclear DNA Mutations in Children
1个月前
已完结
Family trio-based sequencing in 404 sporadic bilateral hearing loss patients discovers recessive and De novo genetic variants in multiple ways
1个月前
已完结
Family trio-based sequencing in 404 sporadic bilateral hearing loss patients discovers recessive and De novo genetic variants in multiple ways
1个月前
已完结
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