Last Posted: Dec 18, 2020
- Current Clinical Applications of in vivo Gene Therapy with AAVs.
Mendell Jerry R et al. Molecular therapy : the journal of the American Society of Gene Therapy 2020 Dec - Gene therapy randomised clinical trials in Europe - a review paper of methodology and design.
Ilieva Krassimira et al. Journal of market access & health policy 2020 Nov 8(1) 1847808 - Diagnostic power and clinical impact of exome sequencing in a cohort of 500 patients with rare diseases.
Quaio Caio Robledo D'Angioli Costa et al. American journal of medical genetics. Part C, Seminars in medical genetics 2020 Nov - [Evaluation of a future scenario concerning the use of big data applications to improve the care of people with rare diseases].
Sedlmayr Brita et al. Zeitschrift fur Evidenz, Fortbildung und Qualitat im Gesundheitswesen 2020 Nov - Interface management concepts in healthcare for rare diseases in Germany: a study protocol for a mixed-methods study to develop best practice recommendations.
Inhestern Laura et al. BMJ open 2020 Nov 10(11) e040470 - PaVe-GT: Collaborative NIH Effort Aimed at Creating a Gene Therapy Playbook, Making Rare Disease Treatments More Accessible
NIH NCATS, November 30, 2020 - Incidence of inherited metabolic disorders in southern Israel: a comparison between consanguinity and non-consanguinity communities.
Hazan G et al. Orphanet journal of rare diseases 2020 15(1) 331 - An international telemedicine program for diagnosis of genetic disorders: Partnership of pediatrician and geneticist.
Mena Rafael et al. American journal of medical genetics. Part C, Seminars in medical genetics 2020 Nov - Clinical and genetic characteristics and prenatal diagnosis of patients presented GDD/ID with rare monogenic causes.
Lin Liling et al. Orphanet journal of rare diseases 2020 Nov 15(1) 317 - Genetic variant affecting the myosin light chain 2 related to familial hypertrophic cardiomyopathy.
Gil Wilmar Saldarriaga et al. Intractable & rare diseases research 2020 Nov 9(4) 229-232
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