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  • × Frontiers in Genetic
  • × retinitis pigmentosa
 全选  【符合条件的数据共：7条】

1 Usher Syndrome: Genetics and Molecular Links of Hearing Loss and Directions for Therapy [期刊论文]

来源：Frontiers in Genetics , 2020

作者:Rodney J. Dilley;Zi Ying Ng;Meg Whatley;等

关键词:hearing loss;Usher syndrome;...

使用许可:Unknown

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2 Genetic Screening of the Usher Syndrome in Cuba [期刊论文]

来源：Frontiers in Genetics , 2019

作者:Araceli Lantigua;Elayne E. Santana;Teresa Jaijo;等

关键词:retinitis pigmentosa;sensorineural hearing loss;...

使用许可:Unknown

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3 A Combined in silico, in vitro and Clinical Approach to Characterize Novel Pathogenic Missense Variants in PRPF31 in Retinitis Pigmentosa [期刊论文]

来源：Frontiers in Genetics , 2019

作者:Nervine Meshad;Samantha Hunt;Amanda Churchill;等

关键词:genetic disease;modeling;...

使用许可:Unknown

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4 Rare Compound Heterozygous Frameshift Mutations in ALMS1 Gene Identified Through Exome Sequencing in a Taiwanese Patient With Alström Syndrome [期刊论文]

来源：Frontiers in Genetics , 2018

作者:Hui-Wen Yu;Peng-Chieh Chen;Tsunglin Liu;等

关键词:Alström syndrome;ALMS1 gene;...

使用许可:Unknown

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5 An Update on Phosphodiesterase Mutations Underlying Genetic Etiology of Hearing Loss and Retinitis Pigmentosa [期刊论文]

来源：Frontiers in Genetics , 2018

作者:Xue Zhong Liu;Nicole Bencie;Rahul Mittal;等

关键词:phosphodiesterase;CRISPR/Cas9;...

使用许可:Unknown

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6 Genotype–Phenotype Analysis of RPGR Variations: Reporting of 62 Chinese Families and a Literature Review [期刊论文]

来源：Frontiers in Genetics , 2021

作者:Lin Zhou;Xueshan Xiao;Wenmin Sun;等

关键词:RPGR;retinitis pigmentosa;...

使用许可:Unknown

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