Genotype data and encryption keys are generated at a certified institution ( CI). The patient is provided the full key, which also is randomly split between ...
Substrate changes following migalastat treatment by amenability category. (a) (top): Kidney interstitial capillary GL-3 absolute change after 6 months of ...
A three-step workflow procedure for the interpretation of array-based comparative genome hybridization results in patients with idiopathic mental ...
A, Analysis focused on the 166 gene-disease associations reported by Hischhorn et al. as being tested at least three times in independent ...
The abnormalities in the pathway of tyrosine metabolism in tyrosinemia type I. Tyrosine is provided both directly from dietary sources and by direct ...
Which Lynch syndrome screening programs could be implemented in the “real world”? A systematic review of economic evaluations | Genetics in Medicine
The enzymes encoded by genes investigated in the present study are indicated. MTHFR: methylenetetrahydrofolate reductase; MTRR: methionine synthase ...
A novel computational algorithm PGCNARS (paralogous gene copy-number analysis by ratio and sum) for SMN1 copy-number analysis using next-generation ...
This chart organizes each of the criteria by the type of evidence as well as the strength of the criteria for a benign (left side) or pathogenic (right ...
Genetics-related health-care activities by assigned risk category: discussion of family cancer history, referral for genetic counseling, and BRCA testing.
Summary of hospital characteristics by status of ordering the 21-gene RS test. (a) Institutional characteristics. (b) NCI cooperative groups.
Level of anxiety (assessed by using the 6-item short form of the State-Trait Anxiety Inventory [STAI]) during the study among 110 test-participants who ...
The potential impact of R4S tools, interpretation rules, 2TTs, and other potential interventions on the number of FP cases that were reported in California ...
Dotted vertical lines indicate the 95% confidence interval (CI) for each group. The study weighting within ...
Region 4 Stork plot by condition for remethylation disorders (N = 16). This plot converts each case value to the corresponding multiple of the reference ...
MSH6 and PMS2 germ-line pathogenic variants implicated in Lynch syndrome are associated with breast cancer | Genetics in Medicine
Molecular aspects of the APP gene and protein showing the sites of cleavage by α, β, and γ secretases, production of the Aβ peptide (upper right), ...
Phosphorylation of Fen1 by Cdk1–Cyclin A prevents its PCNA binding and consequently abolishing PCNA stimulation. (a) GST pull-down experiments were ...
Pearson correlation matrix, mean scores, and standard deviations for constructs included in the study
Preliminary validation of a consumer-oriented colorectal cancer risk assessment tool compatible with the US Surgeon General's My Family Health Portrait ...
R4S plot by condition for β-ketothiolase (BKT) deficiency. This plot converts each case value to the corresponding multiple of the cumulative median (MoM).
Constitutively active Akt1 protects HL60 leukemia cells from TRAIL-induced apoptosis through a mechanism involving NF-κB activation and cFLIPL up-regulation ...
Risk ratios for severe diarrhea among cancer patients treated with Irinotecan by UGT1A1 genotype from six published studies. The studies are listed on the ...
Key Demographic and Metabolic Parameters of the In Silico Subjects Available in the Simulation Environment .
Association between urinary methionine sulfoxide/creatinine ratio and lung mean alveolar chord length (MACL). A significant association between urinary ...
(a,b) In skeletal muscle immunoblotting detected decreased steady-state levels of mitochondrial oxidative phosphorylation complex subunits for complexes I, ...
Descriptive statistics and between-group differences for participant demographics and scale responses .