Lv51
1140 积分 2023-09-24 加入
Optimization of the diagnosis of inherited colorectal cancer using NGS and capture of exonic and intronic sequences of panel genes
1小时前
求助中
A novel E153X point mutation in the androgen receptor gene in a patient with complete androgen insensitivity syndrome
2个月前
已关闭
Novel pathogenic variants in the androgen receptor gene associated with androgen insensitivity syndrome identified through exome sequencing and in silico analysis
2个月前
已完结
Functional Categorization of BRCA1 Variants of Uncertain Clinical Significance in Homologous Recombination Repair Complementation Assays
3个月前
已完结
A multicenter clinical exome study in unselected cohorts from a consanguineous population of Saudi Arabia demonstrated a high diagnostic yield
4个月前
已完结
Sector Retinitis Pigmentosa Associated With Novel Compound Heterozygous Mutations of CDH23
5个月前
已关闭
[X-linked Alport syndrome: auditory pathogenic variant features and further genotype-phenotype correlations in female patients]
5个月前
已关闭
Atlas of the clinical genetics of human dilated cardiomyopathy
5个月前
已完结
Novel and recurrent germline alterations in the MLH1 and MSH2 genes identified in hereditary nonpolyposis colorectal cancer patients in Slovakia
5个月前
已关闭
An update of the mutation spectrum of phenylalanine hydroxylase (PAH) gene in the population of Turkey
6个月前
已完结
Advancing Membrane-Associated Protein Docking with Improved Sampling and Scoring in Rosetta
11个月前
已采纳
Evaluation of human exposure and building damage to high-speed train-induced ground-borne vibration based on numerical studies: A comparison with international standards
11个月前
已采纳
Mo/Si multilayers used for the EUV normal incidence solar telescope
11个月前
已采纳
The aryl hydrocarbon receptor as a tumor modulator: mechanisms to therapy
11个月前
已采纳
Bacterial and fungal community compositions and structures of a skatole-degrading culture enriched from pig slurry
11个月前
已采纳
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