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RNA interference (RNAi) therapeutics (siRNA, miRNA, etc.) represent an emerging medicinal remedy ...

期刊:Nanomedicine (Lond)  影响因子:0.0  发表日期: 20171101  PMID: 28960165 


BACKGROUND: De Barsy syndrome is a rare, autosomal recessive syndrome characterized by cutis laxa...

关键词: cutis laxa    fever    genetic diseases    rare diseases    syndrome   
期刊:Paediatr Anaesth  影响因子:0.0  发表日期: 20180101  PMID: 29148179 


Mucopolysaccharidoses are inherited metabolic disorders that result from a deficiency of lysosoma...

期刊:Vet Pathol  影响因子:1.996  发表日期: 20170101  PMID: 29157190 


Peroxisomes are unique subcellular organelles which play an indispensable role in several key met...

期刊:Front Cell Dev Biol  影响因子:0.0  发表日期: 20150101  PMID: 26858947 


Here we propose a registration process for population genetic isolates, usually geographic cluste...

期刊:Genet Mol Biol  影响因子:1.147  发表日期: 20140301  PMID: 24764753 


关键词: genetic diseases    prenatal screening   
期刊:Rev Prat  影响因子:0.0  发表日期: 20190201  PMID: 30983238 


As a result of cell-specific functions of voltage-activated K(+) channels, such as Kv7.1, mutatio...

期刊:Front Cell Neurosci  影响因子:3.9  发表日期: 20150101  PMID: 25705178 


Efforts to identify the genetic underpinnings of rare undiagnosed diseases increasingly involve t...

期刊:Genetics  影响因子:3.564  发表日期: 20170901  PMID: 28874452 


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