Lv59
824 积分 2024-08-07 加入
Neurological insights on two siblings with GM3 synthase deficiency due to novel compound heterozygous ST3GAL5 variants
8小时前
已完结
CHST6 mutations identified in Iranian MCD patients and CHST6 mutations reported worldwide identify targets for gene editing approaches including the CRISPR/Cas system
8小时前
已关闭
Novel biallelic mutations in PADI6 in patients with early embryonic arrest
22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
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