Lv1
10 积分 2025-02-09 加入
Genetic spectrum and founder effect of non-dystrophic myotonia: a Japanese case series study
5小时前
待确认
[Expert consensus on the prenatal diagnosis and genetic counseling for uniparental disomy-related imprinting disorders]
6天前
已完结
Exploring microperimetry and autofluorescence endpoints for monitoring disease progression in PRPF31-associated retinopathy
10天前
已完结
Genebe.net: Implementation and validation of an automatic ACMG variant pathogenicity criteria assignment
10天前
已完结
New mutations in the ATM gene and clinical data of 25 AT patients
1个月前
已完结
Non‐Canonical Splice Site Variant in FREM1 Result in Fetal Renal Agenesis
1个月前
已完结
Identification of Pathogenic Variants in RPGRIP1L with Meckel Syndrome and Preimplantation Genetic Testing in a Chinese Family
1个月前
已完结
A case of uncombable hair syndrome: light microscopy, trichoscopy and scanning electron microscopy
1个月前
已关闭
Whole exome sequencing improves genetic diagnosis of fetal clubfoot
1个月前
已完结
Genetic analysis of compound heterozygous pathogenic variants of the F11 gene in two Chinese patients with hereditary factor XI deficiency
1个月前
已完结
Cancer type-specific adverse events of immune checkpoint inhibitors: A systematic review and meta-analysis
7个月前
已采纳
H4K12 Lactylation Activated‐Spp1 in Reprogrammed Microglia Improves Functional Recovery After Spinal Cord Injury
7个月前
已采纳
Shared chemoresistance genes in ESCC and cervical Cancer: Insights from pharmacogenomics and Mendelian randomization
8个月前
已采纳
Performance/structure correlation for composite SOFC cathodes
8个月前
已采纳
Isolation and characterisation of acid-solubilised collagen from the skin of Nile tilapia (Oreochromis niloticus)
8个月前
已采纳
The effect of preheating of a viscous and non-Newtonian bioliquid on its internally mixed twin-fluid atomization
8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
8个月前
已驳回
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