Summary of published screening studies based primarily on biomarker analysis. (DOCX 29 kb
Sub-domains of PRO assessed per PRO. A table summarizing the sub-domains of PRO assessed per PRO. (D...
Supplemental information on the methods of the next-generation sequencing panel at OHSU used for ana...
Table S4. List of the 192 additional variants that matched the filter criteria (variants in addition...
Summary of published screening studies based primarily on genetic analysis. (DOCX 27 kb
Summary of published screening studies based primarily on medical chart review and bioinformatics/da...
The validated proteins/protein groups that identified in all samples and their UniProt accessions, p...
Article critical appraisal: 19 items checklist for the critical appraisal of the included studies. (...
BACKGROUND: Rare and ultra-rare diseases (URDs) are often chronic and life-threatening conditions th...
Additional file 2: Table S2. Clinically significant variants detected in this patient cohort
Biochemical analysis of the Gaucher Disease patients. The plasma chitotriosidase enzyme activity and...
Selection of genes related to triglyceride- and cholesterol metabolism (285 genes). Genes expressed ...
Differentially expressed genes associated with plasma n-6 level and expressed by more than one probe...
CRISPR models. Excel table containing statistically significant predictive models found using the CR...
Supplementary table reporting single gene de novo or hemizygous deletions or intragenic duplications...
Full parameters table. This file contains the full parameters table including the distributions used...
Sub-domains of PRO assessed per PRO. A table summarizing the sub-domains of PRO assessed per PRO. (D...
Supplemental information on the methods of the next-generation sequencing panel at OHSU used for ana...
Table S4. List of the 192 additional variants that matched the filter criteria (variants in addition...
Summary of published screening studies based primarily on genetic analysis. (DOCX 27 kb
Summary of published screening studies based primarily on medical chart review and bioinformatics/da...
The validated proteins/protein groups that identified in all samples and their UniProt accessions, p...
Article critical appraisal: 19 items checklist for the critical appraisal of the included studies. (...
BACKGROUND: Rare and ultra-rare diseases (URDs) are often chronic and life-threatening conditions th...
Additional file 2: Table S2. Clinically significant variants detected in this patient cohort
Biochemical analysis of the Gaucher Disease patients. The plasma chitotriosidase enzyme activity and...
Selection of genes related to triglyceride- and cholesterol metabolism (285 genes). Genes expressed ...
Differentially expressed genes associated with plasma n-6 level and expressed by more than one probe...
CRISPR models. Excel table containing statistically significant predictive models found using the CR...
Supplementary table reporting single gene de novo or hemizygous deletions or intragenic duplications...
Full parameters table. This file contains the full parameters table including the distributions used...
Sub-domains of PRO assessed per PRO. A table summarizing the sub-domains of PRO assessed per PRO. (D...
Supplemental information on the methods of the next-generation sequencing panel at OHSU used for ana...
Table S4. List of the 192 additional variants that matched the filter criteria (variants in addition...
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