Last Posted: Oct 02, 2020
- Development of a Social Network for People Without a Diagnosis (RarePairs): Evaluation Study.
Kühnle Lara et al. Journal of medical Internet research 2020 Sep 22(9) e21849 - Evaluating systematic reanalysis of clinical genomic data in rare disease from single center experience and literature review.
Tan Natalie B et al. Molecular genetics & genomic medicine 2020 Sep e1508 - (Un)standardized testing: the diagnostic odyssey of children with rare genetic disorders in Alberta, Canada
CM Igbokwe et al, Genetics in Medicine, September 29, 2020 - Diagnosis of Rare Diseases: a scoping review of clinical decision support systems.
Schaaf Jannik et al. Orphanet journal of rare diseases 2020 Sep 15(1) 263 - Cost-effectiveness analysis of using the TBX6-associated congenital scoliosis risk score (TACScore) in genetic diagnosis of congenital scoliosis.
Chen Zefu et al. Orphanet journal of rare diseases 2020 Sep 15(1) 250 - Genetic testing offer for inherited neuromuscular diseases within the EURO-NMD reference network: A European survey study.
Peterlin Borut et al. PloS one 2020 15(9) e0239329 - Graphical Analyses in the Regulatory Evaluation of Gene Therapy Applications.
Lin Xue et al. Therapeutic innovation & regulatory science 2020 Sep - A Germany-wide survey study on the patient journey of patients with hereditary angioedema.
Magerl Markus et al. Orphanet journal of rare diseases 2020 Aug 15(1) 221 - Comprehensive Rare Disease Care model for screening and diagnosis of rare genetic diseases - an experience of private medical college and hospital, South India.
Nilakantam Sathish Raju et al. Intractable & rare diseases research 2020 Aug 9(3) 179-183 - Conversion of individuals at risk for spinocerebellar ataxia types 1, 2, 3, and 6 to manifest ataxia (RISCA): a longitudinal cohort study.
Jacobi Heike et al. The Lancet. Neurology 2020 Sep 19(9) 738-747
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