Detalhe da pesquisa
1.
Understanding the evolving phenotype of vascular complications in telomere biology disorders.
Angiogenesis
; 22(1): 95-102, 2019 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30168024
2.
Immune response to enzyme replacement therapies in lysosomal storage diseases and the role of immune tolerance induction.
Mol Genet Metab
; 117(2): 66-83, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-26597321
3.
Phenylketonuria Scientific Review Conference: state of the science and future research needs.
Mol Genet Metab
; 112(2): 87-122, 2014 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-24667081
4.
Important role of translational science in rare disease innovation, discovery, and drug development.
J Gen Intern Med
; 29 Suppl 3: S804-7, 2014 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-25029971
5.
Cross-sector sponsorship of research in eosinophilic esophagitis: a collaborative model for rational drug development in rare diseases.
J Allergy Clin Immunol
; 130(3): 613-6, 2012 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-22857796
6.
Successfully Navigating Food and Drug Administration Orphan Drug and Rare Pediatric Disease Designations for AAV9-hPCCA Gene Therapy: The National Institutes of Health Platform Vector Gene Therapy Experience.
Hum Gene Ther
; 34(5-6): 217-227, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36694456
7.
Towards the international interoperability of clinical research networks for rare diseases: recommendations from the IRDiRC Task Force.
Orphanet J Rare Dis
; 18(1): 109, 2023 05 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37161573
8.
The role of immune tolerance induction in restoration of the efficacy of ERT in Pompe disease.
Am J Med Genet C Semin Med Genet
; 160C(1): 30-9, 2012 Feb 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-22253234
9.
The national economic burden of rare disease in the United States in 2019.
Orphanet J Rare Dis
; 17(1): 163, 2022 04 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-35414039
10.
Artificial Intelligence in Medical Imaging and its Impact on the Rare Disease Community: Threats, Challenges and Opportunities.
PET Clin
; 17(1): 13-29, 2022 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-34809862
11.
Global Regulatory and Public Health Initiatives to Advance Pediatric Drug Development for Rare Diseases.
Ther Innov Regul Sci
; 56(6): 964-975, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-35471559
12.
Scientific evidence based rare disease research discovery with research funding data in knowledge graph.
Orphanet J Rare Dis
; 16(1): 483, 2021 11 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-34794473
13.
The IDeaS initiative: pilot study to assess the impact of rare diseases on patients and healthcare systems.
Orphanet J Rare Dis
; 16(1): 429, 2021 10 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-34674728
14.
Leveraging the UMLS As a Data Standard for Rare Disease Data Normalization and Harmonization.
Methods Inf Med
; 59(4-05): 131-139, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33147635
15.
Phenotypically Similar Rare Disease Identification from an Integrative Knowledge Graph for Data Harmonization: Preliminary Study.
JMIR Med Inform
; 8(10): e18395, 2020 Oct 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33006565
16.
An integrative knowledge graph for rare diseases, derived from the Genetic and Rare Diseases Information Center (GARD).
J Biomed Semantics
; 11(1): 13, 2020 11 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33183351
17.
Recent Advances in Systems and Network Medicine: Meeting Report from the First International Conference in Systems and Network Medicine.
Syst Med (New Rochelle)
; 3(1): 22-35, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32226924
18.
A framework for the investigation of rare genetic disorders in neuropsychiatry.
Nat Med
; 25(10): 1477-1487, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31548702
19.
From scientific discovery to treatments for rare diseases - the view from the National Center for Advancing Translational Sciences - Office of Rare Diseases Research.
Orphanet J Rare Dis
; 13(1): 196, 2018 11 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30400963
20.
Representation of Women and Minorities in Clinical Trials for New Molecular Entities and Original Therapeutic Biologics Approved by FDA CDER from 2013 to 2015.
J Womens Health (Larchmt)
; 27(4): 418-429, 2018 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29048983