Lv58
824 积分 2024-08-07 加入
Novel biallelic mutations in PADI6 in patients with early embryonic arrest
9小时前
已完结
Pyrroline-5-carboxylate reductase 2 (PYCR2) deficiency causes hereditary spastic paraplaegia in late childhood
1天前
已完结
Exploring metabolic alterations in PYCR2 deficiency: Unveiling pathways and clinical presentations of hypomyelinating leukodystrophy 10
1天前
已关闭
Exploring metabolic alterations in PYCR2 deficiency: Unveiling pathways and clinical presentations of hypomyelinating leukodystrophy 10
1天前
已完结
ASTL is mutated in female infertility
2天前
已完结
Novel biallelic ASTL variants are associated with polyspermy and female infertility: A successful live birth following ICSI treatment
2天前
已完结
Clinical, pathological and genetic features and follow-up of 110 patients with late-onset MADD: a single-center retrospective study
3天前
已完结
Mutation Analysis of <i>PKD1</i> and <i>PKD2</i> Genes in a Large Italian Cohort Reveals Novel Pathogenic Variants Including a Novel Complex Rearrangement
3天前
已完结
Molecular diagnostic results of a nephropathy gene panel in patients with suspected hereditary kidney disease
3天前
已完结
Family trio-based sequencing in 404 sporadic bilateral hearing loss patients discovers recessive and De novo genetic variants in multiple ways
3天前
已完结
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