Lv12
30 积分 2025-02-09 加入
Osteogenesis imperfecta in 140 Turkish families: Molecular spectrum and, comparison of long-term clinical outcome of those with COL1A1/A2 and biallelic variants
1天前
已完结
Genetic analysis of osteogenesis imperfecta in a large Brazilian cohort
1天前
已完结
A comparative analysis of KMT2D missense variants in Kabuki syndrome, cancers and the general population
3天前
已完结
Recessive osteogenesis imperfecta caused by LEPRE1 mutations: clinical documentation and identification of the splice form responsible for prolyl 3-hydroxylation
4天前
求助中
Assessment of the evidence yield for the calibrated PP3/BP4 computational recommendations
7天前
已完结
Clinical and genetic spectra of 1550 index patients with hereditary spastic paraplegia
8天前
已完结
[Mutation detection of ADPKD PKD1 gene in Hans by denaturing high-performance liquid chromatography]
10天前
已关闭
Neurofibromatosis type 1 families with first-degree relatives harbouring distinct NF1 pathogenic variants. Genetic counselling and familial diagnosis: what should be offered?
11天前
已完结
Evaluation of Molecular and Clinical Findings in Children With Neurofibromatosis Type 1: Identification of 15 Novel Variants
13天前
已完结
A Novel Mutation of Ribosomal Protein S10 Gene in a Japanese Patient With Diamond-Blackfan Anemia
16天前
已完结
Cancer type-specific adverse events of immune checkpoint inhibitors: A systematic review and meta-analysis
3个月前
已采纳
H4K12 Lactylation Activated‐Spp1 in Reprogrammed Microglia Improves Functional Recovery After Spinal Cord Injury
3个月前
已采纳
Shared chemoresistance genes in ESCC and cervical Cancer: Insights from pharmacogenomics and Mendelian randomization
4个月前
已采纳
Performance/structure correlation for composite SOFC cathodes
4个月前
已采纳
Isolation and characterisation of acid-solubilised collagen from the skin of Nile tilapia (Oreochromis niloticus)
4个月前
已采纳
The effect of preheating of a viscous and non-Newtonian bioliquid on its internally mixed twin-fluid atomization
4个月前
已采纳
Creation in the semantics of verbs and constructions: A force-dynamic analysis of the argument structure of creation verbs in Brazilian Portuguese
4个月前
已驳回
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