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1.
Comparison of nuisance parameters in pediatric versus adult randomized trials: a meta-epidemiologic empirical evaluation.
BMC Med Res Methodol
; 18(1): 7, 2018 01 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-29321002
2.
A systematic review to investigate the measurement properties of goal attainment scaling, towards use in drug trials.
BMC Med Res Methodol
; 16: 99, 2016 08 17.
Artículo
en Inglés
| MEDLINE | ID: mdl-27534620
3.
Effects of a simple educational intervention in well-baby clinics on women's knowledge about and intake of folic acid supplements in the periconceptional period: a controlled trial.
Public Health Nutr
; 18(6): 1119-26, 2015 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-24866258
4.
Ephedrine for myasthenia gravis, neonatal myasthenia and the congenital myasthenic syndromes.
Cochrane Database Syst Rev
; (12): CD010028, 2014 Dec 17.
Artículo
en Inglés
| MEDLINE | ID: mdl-25515947
5.
Newborn screening for pompe disease? a qualitative study exploring professional views.
BMC Pediatr
; 14: 203, 2014 Aug 14.
Artículo
en Inglés
| MEDLINE | ID: mdl-25124044
6.
Severely impaired health status at diagnosis of Pompe disease: a cross-sectional analysis to explore the potential utility of neonatal screening.
Mol Genet Metab
; 107(3): 448-55, 2012 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-23040796
7.
Newborn screening programmes in Europe; arguments and efforts regarding harmonization. Part 1. From blood spot to screening result.
J Inherit Metab Dis
; 35(4): 603-11, 2012 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-22552820
8.
Newborn screening programmes in Europe; arguments and efforts regarding harmonization. Part 2. From screening laboratory results to treatment, follow-up and quality assurance.
J Inherit Metab Dis
; 35(4): 613-25, 2012 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-22544437
9.
An n-of-one RCT for intravenous immunoglobulin G for inflammation in hereditary neuropathy with liability to pressure palsy (HNPP).
J Neurol Neurosurg Psychiatry
; 87(7): 790-1, 2016 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-26187721
10.
Population based epidemiology of amyotrophic lateral sclerosis using capture-recapture methodology.
J Neurol Neurosurg Psychiatry
; 82(10): 1165-70, 2011 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-21622937
11.
Moving somatic gene editing to the clinic: routes to market access and reimbursement in Europe.
Eur J Hum Genet
; 29(10): 1477-1484, 2021 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-33850300
12.
Raising awareness of carrier testing for hereditary haemoglobinopathies in high-risk ethnic groups in the Netherlands: a pilot study among the general public and primary care providers.
BMC Public Health
; 9: 338, 2009 Sep 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-19754950
13.
Aggregated N-of-1 trials for unlicensed medicines for small populations: an assessment of a trial with ephedrine for myasthenia gravis.
Orphanet J Rare Dis
; 12(1): 88, 2017 05 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-28494776
14.
Ephedrine treatment for autoimmune myasthenia gravis.
Neuromuscul Disord
; 27(3): 259-265, 2017 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-28007405
15.
Mothers' Views on Longer Storage of Neonatal Dried Blood Spots for Specific Secondary Uses.
Public Health Genomics
; 19(1): 25-33, 2016.
Artículo
en Inglés
| MEDLINE | ID: mdl-26581038
16.
Current and best practices of genetic testing for maturity onset diabetes of the young: views of professional experts.
Public Health Genomics
; 18(1): 52-9, 2015.
Artículo
en Inglés
| MEDLINE | ID: mdl-25341961
17.
Ephedrine as add-on therapy for patients with myasthenia gravis: protocol for a series of randomised, placebo-controlled n-of-1 trials.
BMJ Open
; 5(7): e007863, 2015 Jul 16.
Artículo
en Inglés
| MEDLINE | ID: mdl-26185179
18.
A decade of molecular genetic testing for MODY: a retrospective study of utilization in The Netherlands.
Eur J Hum Genet
; 23(1): 29-33, 2015 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-24736738
19.
A framework to start the debate on neonatal screening policies in the EU: an Expert Opinion Document.
Eur J Hum Genet
; 22(1): 12-7, 2014 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-23652378
20.
Population-based incidence and prevalence of facioscapulohumeral dystrophy.
Neurology
; 83(12): 1056-9, 2014 Sep 16.
Artículo
en Inglés
| MEDLINE | ID: mdl-25122204
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