Lv11
20 积分 2024-02-23 加入
Defining the Genetic Landscape of Congenital Mirror Movements in 80 Affected Individuals
2小时前
待确认
Targeted High-Throughput Sequencing Analysis Results of Osteogenesis Imperfecta Patients from Different Regions of Turkey
2天前
已完结
Targeted multi-gene panel testing for the diagnosis of Bardet Biedl syndrome: Identification of nine novel mutations across BBS1, BBS2, BBS4, BBS7, BBS9, BBS10 genes
3天前
已完结
Identification of a novel homozygous mutation in NAXE gene associated with early-onset progressive encephalopathy by whole-exome sequencing: in silico protein structure characterization, molecular docking, and dynamic simulation
11天前
已完结
Excessive glycine loop variations in the keratin 10 tail domain and implications for skin fragility
11天前
已完结
Biallelic MED16 variants disrupt neural development and lead to an intellectual disability syndrome
21天前
已完结
Sequencing of selected chromatin remodelling genes reveals increased burden of rare missense variants in ASD patients from the Japanese population
26天前
已完结
Seminoma Caused by PDE11A Frameshift Variant with Multiple Abnormalities: A Case Report
27天前
已关闭
Mutational analysis of promoters of mismatch repair genes hMSH2 and hMLH1 in hereditary nonpolyposis colorectal cancer and early onset colorectal cancer patients: identification of three novel germ-line mutations in promoter of the hMSH2 gene
1个月前
已完结
Improved sensitivity for detection of pathogenic variants in familial NF2-related schwannomatosis
1个月前
已完结
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