Lv51
1020 积分 2023-09-24 加入
A multicenter clinical exome study in unselected cohorts from a consanguineous population of Saudi Arabia demonstrated a high diagnostic yield
2天前
已完结
Sector Retinitis Pigmentosa Associated With Novel Compound Heterozygous Mutations of CDH23
7天前
已关闭
[X-linked Alport syndrome: auditory pathogenic variant features and further genotype-phenotype correlations in female patients]
19天前
已关闭
Atlas of the clinical genetics of human dilated cardiomyopathy
1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
1个月前
已关闭
An update of the mutation spectrum of phenylalanine hydroxylase (PAH) gene in the population of Turkey
1个月前
已完结
Cobblestone lissencephaly: neuropathological subtypes and correlations with genes of dystroglycanopathies
2个月前
已完结
Epidemiology and clinical aspects of Werner's syndrome in North Sardinia: description of a cluster
2个月前
已完结
Novel Mutations in EPCAM Cause Congenital Tufting Enteropathy
2个月前
已关闭
Whole-exome sequencing deciphers the genetic profile of visual impairments in patients from Southwest Iran
2个月前
已完结
Advancing Membrane-Associated Protein Docking with Improved Sampling and Scoring in Rosetta
6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
6个月前
已采纳
Mo/Si multilayers used for the EUV normal incidence solar telescope
6个月前
已采纳
The aryl hydrocarbon receptor as a tumor modulator: mechanisms to therapy
6个月前
已采纳
Bacterial and fungal community compositions and structures of a skatole-degrading culture enriched from pig slurry
6个月前
已采纳
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