Detalhe da pesquisa
1.
Are we prepared to deliver gene-targeted therapies for rare diseases?
Am J Med Genet C Semin Med Genet
; 193(1): 7-12, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36691939
2.
The sixth international RASopathies symposium: Precision medicine-From promise to practice.
Am J Med Genet A
; 182(3): 597-606, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31825160
3.
Clinical Follow-Up for Duchenne Muscular Dystrophy Newborn Screening: A Proposal.
Muscle Nerve
; 54(2): 186-91, 2016 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-27170260
4.
Cost of illness for neuromuscular diseases in the United States.
Muscle Nerve
; 49(3): 431-8, 2014 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-23836444
5.
The Early Care (0-3 Years) In Duchenne Muscular Dystrophy Meeting Report.
J Neuromuscul Dis
; 11(2): 525-533, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38189762
6.
Newborn screening for Duchenne muscular dystrophy: A two-year pilot study.
Ann Clin Transl Neurol
; 10(8): 1383-1396, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37350320
7.
Circulating tumor DNA reveals mechanisms of lorlatinib resistance in patients with relapsed/refractory ALK-driven neuroblastoma.
Nat Commun
; 14(1): 2601, 2023 05 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-37147298
8.
Patient-Centered Core Impact Sets: What They are and Why We Need Them.
Patient
; 15(6): 619-627, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-35653038
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.
Common Challenges and Identified Solutions for State Newborn Screening Programs during COVID-19 Pandemic.
Int J Neonatal Screen
; 8(1)2022 Jan 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-35225930
11.
Metabolic Enzyme DLST Promotes Tumor Aggression and Reveals a Vulnerability to OXPHOS Inhibition in High-Risk Neuroblastoma.
Cancer Res
; 81(17): 4417-4430, 2021 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34233924
12.
Data Sharing Goals for Nonprofit Funders of Clinical Trials.
J Particip Med
; 13(1): e23011, 2021 Mar 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-33779573
13.
Correction: Data Sharing Goals for Nonprofit Funders of Clinical Trials.
J Particip Med
; 13(2): e31371, 2021 Jun 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-34255670
14.
Stakeholder-Engaged Derivation of Patient-Informed Value Elements.
Patient
; 13(5): 611-621, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32676998
15.
Duchenne Muscular Dystrophy Newborn Screening: Evaluation of a New GSP® Neonatal Creatine Kinase-MM Kit in a US and Danish Population.
Int J Neonatal Screen
; 5(3): 27, 2019 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-33072986
16.
Childbirth freedom fighters.
Midwifery Today Int Midwife
; (106): 62-3, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-23847907
17.
Health Care Transition Experiences of Males with Childhood-onset Duchenne and Becker Muscular Dystrophy: Findings from the Muscular Dystrophy Surveillance Tracking and Research Network (MD STARnet) Health Care Transitions and Other Life Experiences Survey.
PLoS Curr
; 102018 Aug 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-30210936
18.
A Transition Toolkit for Duchenne Muscular Dystrophy.
Pediatrics
; 142(Suppl 2): S110-S117, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-30275255
19.
Duchenne Muscular Dystrophy Newborn Screening, a Case Study for Examining Ethical and Legal Issues for Pilots for Emerging Disorders: Considerations and Recommendations.
Int J Neonatal Screen
; 4(1): 6, 2018 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-33072932
20.
Diagnosis and management of Duchenne muscular dystrophy, part 3: primary care, emergency management, psychosocial care, and transitions of care across the lifespan.
Lancet Neurol
; 17(5): 445-455, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29398641