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资源简介：
Inherited retinal dystrophy
应用场景：
创建时间：
2013-11-22
相关数据集
Supplementary Material for: Current management of patients with RPE65 mutation-associated Inherited Retinal Degenerations (RPE65-IRD) in Europe. Results of a 2 years follow-up multinational survey
Introduction: To evaluate the current management of RPE65-biallelic mutation-associated inherited retinal degeneration (RPE65-IRD) in Europe since market authorization of Voretigene Neparvovec (VN, Lu
DataCite Commons2023-07-22 更新90
Data_Sheet_1_Clinical and Genetic Spectrum of Stargardt Disease in Argentinean Patients.PDF
PurposeTo describe the clinical and molecular spectrum of Stargardt disease (STGD) in a cohort of Argentinean patients. MethodsThis retrospective study included 132 subjects comprising 95 probands cli
NIAID Data Ecosystem60
Molecular findings from 537 individuals with inherited retinal disease.
Abstract Background Inherited retinal diseases (IRDs) are a clinically and genetically heterogeneous set of disorders, for which diagnostic second-generation sequencing (next-generation sequencing, NG
Figshare2016-06-20 更新20
Additional file 6 of Definition of the transcriptional units of inherited retinal disease genes by meta-analysis of human retinal transcriptome data
Additional file 6:Supplementary Dataset File 6. Putative novel IRD transcripts with a) more than 1 median TPM and b) relative contribution to overall expression of the corresponding gene greater than
Mendeley Data2024-06-25 更新80
Pattern dystrophy in a female carrier of RP2 mutation
Pattern dystrophy in a female carrier of RP2 mutation
Figshare2016-11-17 更新40
