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Precision Health Database


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Rare Diseases

Last data update: Sep 27, 2023. (Total: 61652 Documents since 2012)
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Query Trace: all[original query]>>Evidence Synthesis [Product Type]
Cost-effectiveness of genetic-based screening strategies for maturity-onset diabetes of the young.
Gábor Kovács et al. Per Med 2023
Cost-effectiveness of HLA-B*58:01 testing to prevent Stevens-Johnson syndrome/toxic epidermal necrolysis in Vietnam.
Khanh Nc Duong et al. Pharmacogenomics 2023
Cost-effectiveness of preventive aspirin use and intensive downstaging polypectomy in patients with familial adenomatous polyposis: A microsimulation modeling study.
Eiko Saito et al. Cancer Med 2023
Carrier Screening Programs for Cystic Fibrosis, Fragile X Syndrome, Hemoglobinopathies and Thalassemia, and Spinal Muscular Atrophy: A Health Technology Assessment.
et al. Ont Health Technol Assess Ser 2023 23(4) 1-398
Risk Factors for Developing Both Primary Breast and Primary Ovarian Cancer: A Systematic Review.
Jennifer S Ferris et al. Crit Rev Oncol Hematol 2023 104081
Machine learning applications for early detection of esophageal cancer: a systematic review.
Farhang Hosseini et al. BMC Med Inform Decis Mak 2023 23(1) 124
Phenylalanine hydroxylase deficiency treatment and management: A systematic evidence review of the American College of Medical Genetics and Genomics (ACMG)
AD Adams et al, Genetics in Medicine, July 20, 2023
Machine and Deep Learning for Tuberculosis Detection on Chest X-Rays: Systematic Literature Review.
Seng Hansun et al. J Med Internet Res 2023 25e43154
The diagnostic value of electrocardiogram-based machine learning in long QT syndrome: a systematic review and meta-analysis.
Min-Juan Wu et al. Front Cardiovasc Med 2023 101172451
Interventions to support decision making in people considering germline genetic testing for BRCA 1/2 pathogenic and likely pathogenic variants: A scoping review.
Rachel A Pozzar et al. J Genet Couns 2023
Performance of deep learning algorithms to distinguish high-grade glioma from low-grade glioma: A systematic review and meta-analysis.
Wanyi Sun et al. iScience 2023 26(6) 106815
Factors predicting BRCA1/2 pathogenic variants in patients with ovarian cancer: a systematic review with meta-analysis.
Giovanni Innella et al. J Clin Pathol 2023
Circulating microRNAs for Early Diagnosis of Ovarian Cancer: A Systematic Review and Meta-Analysis.
Nanna Lond Skov Frisk et al. Biomolecules 2023 13(5)
Cost-Effectiveness of Newborn Screening for Spinal Muscular Atrophy in England.
Diana Weidlich et al. Neurol Ther 2023
A systematic literature review of economic evaluations and cost-of-illness studies of inherited cardiomyopathies.
Isabell Wiethoff et al. Neth Heart J 2023
The most efficient and effective BRCA1/2 testing strategy in epithelial ovarian cancer: Tumor-First or Germline-First?
Vera M Witjes et al. Gynecol Oncol 2023 174121-128
Population Genomic Screening for Three Common Hereditary Conditions : A Cost-Effectiveness Analysis.
Gregory F Guzauskas et al. Ann Intern Med 2023
The effectiveness and value of gene therapy for hemophilia: A Summary from the Institute for Clinical and Economic Review's California Technology Assessment Forum.
Jeffrey A Tice et al. J Manag Care Spec Pharm 2023 29(5) 576-581
Patient perspectives on risk-reducing salpingectomy with delayed oophorectomy for ovarian cancer risk-reduction: A systematic review of the literature.
Luiza Perez et al. Gynecol Oncol 2023 173106-113
Cost-effectiveness analysis of genetic tools to predict treatment response in patients with cystic fibrosis.
Yeva Sahakyan et al. J Cyst Fibros 2023
The potential value of disease-modifying therapy in patients with spinocerebellar ataxia type 1: an early health economic modeling study.
Teije van Prooije et al. J Neurol
Thrombophilia Testing - a Systematic Review.
Lars Asmis et al. Clin Lab 2023 69(4)
Estimation on risk of spontaneous abortions by genomic disorders from a meta-analysis of microarray results on large case series of pregnancy losses.
Gang Peng et al. Molecular genetics & genomic medicine 2023 e2181
Polygenic risk score penetrance & recurrence risk in familial Alzheimer disease.
Min Qiao et al. Annals of clinical and translational neurology 2023
KCNQ2 - Related Epilepsy: geno - phenotype relationship with tailorized anti seizures medication (ASM): Systematic review.
Raffaele Falsaperla et al. Neuropediatrics 2023
Machine learning approaches in diagnosing tuberculosis through biomarkers - A systematic review.
Vimala Balakrishnan et al. Progress in biophysics and molecular biology 2023 17916-25
Interventions for improving adherence to iron chelation therapy in people with sickle cell disease or thalassaemia.
Louise J Geneen et al. The Cochrane database of systematic reviews 2023 3(3) CD012349
Clinical testing panels for ALS: global distribution, consistency, and challenges.
Allison A Dilliott et al. Amyotrophic lateral sclerosis & frontotemporal degeneration 2023 1-16
Clinical Spectrum of LMNA-Associated Type 2 Familial Partial Lipodystrophy: A Systematic Review.
Antia Fernandez-Pombo et al. Cells 2023 12(5)
Strong Cumulative Evidence of Associations of 6 Single Nucleotide Polymorphisms with Ovarian Cancer Risk: An Umbrella Review.
Ying-Jun Huo et al. Journal of clinical medicine 2023 12(5)
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