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Population-based incidence and prevalence of facioscapulohumeral dystrophy

Neurology, 2014-09, Vol.83 (12), p.1056-1059

2014

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Moving somatic gene editing to the clinic: routes to market access and reimbursement in Europe

European journal of human genetics : EJHG, 2021-10, Vol.29 (10), p.1477-1484

2021

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Population based epidemiology of amyotrophic lateral sclerosis using capture–recapture methodology

Journal of neurology, neurosurgery and psychiatry, 2011-10, Vol.82 (10), p.1165-1170

2011

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Newborn screening programmes in Europe; arguments and efforts regarding harmonization. Part 1 - From blood spot to screening result

Journal of inherited metabolic disease, 2012-07, Vol.35 (4), p.603-611

2012

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A framework to start the debate on neonatal screening policies in the EU: an Expert Opinion Document

European journal of human genetics : EJHG, 2014-01, Vol.22 (1), p.12-17

2014

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Newborn screening programmes in Europe; arguments and efforts regarding harmonization. Part 2 – From screening laboratory results to treatment, follow-up and quality assurance

Journal of inherited metabolic disease, 2012-07, Vol.35 (4), p.613-625

2012

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A systematic review to investigate the measurement properties of goal attainment scaling, towards use in drug trials

BMC medical research methodology, 2016-08, Vol.16 (1), p.99-99, Article 99

2016

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Ephedrine treatment for autoimmune myasthenia gravis

Neuromuscular disorders : NMD, 2017-03, Vol.27 (3), p.259-265

2017

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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 nutrition, 2015-04, Vol.18 (6), p.1119-1126

2015

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Ephedrine for myasthenia gravis, neonatal myasthenia and the congenital myasthenic syndromes

Cochrane library, 2014-12, Vol.2014 (12)

2014

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An n-of-one RCT for intravenous immunoglobulin G for inflammation in hereditary neuropathy with liability to pressure palsy (HNPP)

Journal of neurology, neurosurgery and psychiatry, 2016-07, Vol.87 (7), p.790-791

2016

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Aggregated N-of-1 trials for unlicensed medicines for small populations: an assessment of a trial with ephedrine for myasthenia gravis

Orphanet journal of rare diseases, 2017-05, Vol.12 (1), p.88-18, Article 88

2017

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Comparison of nuisance parameters in pediatric versus adult randomized trials: a meta-epidemiologic empirical evaluation

BMC medical research methodology, 2018-01, Vol.18 (1), p.7-7, Article 7

2018

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A decade of molecular genetic testing for MODY: a retrospective study of utilization in The Netherlands

European journal of human genetics : EJHG, 2015-01, Vol.23 (1), p.29-33

2015

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Ephedrine for myasthenia gravis, neonatal myasthenia and the congenital myasthenic syndromes

Cochrane database of systematic reviews, 2014-12, Vol.2014 (12), p.CD010028-CD010028

2014

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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, 2009-09, Vol.9 (1), p.338-338, Article 338

2009

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Current and Best Practices of Genetic Testing for Maturity Onset Diabetes of the Young: Views of Professional Experts

Public health genomics, 2015-01, Vol.18 (1), p.52-59

2015

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Public support for neonatal screening for Pompe disease, a broad-phenotype condition

Orphanet journal of rare diseases, 2012-03, Vol.7 (1), p.15-15

2012

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Mothers’ Views on Longer Storage of Neonatal Dried Blood Spots for Specific Secondary Uses

Public health genomics, 2016-01, Vol.19 (1), p.25-33

2016

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Newborn screening for pompe disease? a qualitative study exploring professional views

BMC pediatrics, 2014-08, Vol.14 (1), p.203-203, Article 203

2014

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Ephedrine as add-on therapy for patients with myasthenia gravis: protocol for a series of randomised, placebo-controlled n-of-1 trials

BMJ open, 2015-07, Vol.5 (7), p.e007863-e007863

2015

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Severely impaired health status at diagnosis of Pompe disease: A cross-sectional analysis to explore the potential utility of neonatal screening

Molecular genetics and metabolism, 2012-11, Vol.107 (3), p.448-455

2012

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From rationing to rationality: an n-of-one trial service for off-label medicines for rare (neuromuscular) diseases

Orphanet journal of rare diseases, 2012-01, Vol.7 (Suppl 2), p.A29-A29

2012

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Multiplex Newborn Screening for Lysosomal Storage Disorders: Feasibility Is Growing but Prediction of Phenotype Needs Elucidation

Public health genomics, 2006-09, Vol.9 (4), p.279-280

Weinreich, Stephanie

2006

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Histopathology of Murine Ankylosing Enthesopathy

Pathology, research and practice, 1998-01, Vol.194 (11), p.797-803

1998

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Population-based incidence and prevalence of facioscapulohumeral dystrophy

Moving somatic gene editing to the clinic: routes to market access and reimbursement in Europe

Population based epidemiology of amyotrophic lateral sclerosis using capture–recapture methodology

Newborn screening programmes in Europe; arguments and efforts regarding harmonization. Part 1 - From blood spot to screening result

A framework to start the debate on neonatal screening policies in the EU: an Expert Opinion Document

Newborn screening programmes in Europe; arguments and efforts regarding harmonization. Part 2 – From screening laboratory results to treatment, follow-up and quality assurance

A systematic review to investigate the measurement properties of goal attainment scaling, towards use in drug trials

Ephedrine treatment for autoimmune myasthenia gravis

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

Ephedrine for myasthenia gravis, neonatal myasthenia and the congenital myasthenic syndromes

An n-of-one RCT for intravenous immunoglobulin G for inflammation in hereditary neuropathy with liability to pressure palsy (HNPP)

Aggregated N-of-1 trials for unlicensed medicines for small populations: an assessment of a trial with ephedrine for myasthenia gravis

Comparison of nuisance parameters in pediatric versus adult randomized trials: a meta-epidemiologic empirical evaluation

A decade of molecular genetic testing for MODY: a retrospective study of utilization in The Netherlands

Ephedrine for myasthenia gravis, neonatal myasthenia and the congenital myasthenic syndromes

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

Current and Best Practices of Genetic Testing for Maturity Onset Diabetes of the Young: Views of Professional Experts

Public support for neonatal screening for Pompe disease, a broad-phenotype condition

Mothers’ Views on Longer Storage of Neonatal Dried Blood Spots for Specific Secondary Uses

Newborn screening for pompe disease? a qualitative study exploring professional views

Ephedrine as add-on therapy for patients with myasthenia gravis: protocol for a series of randomised, placebo-controlled n-of-1 trials

Severely impaired health status at diagnosis of Pompe disease: A cross-sectional analysis to explore the potential utility of neonatal screening

From rationing to rationality: an n-of-one trial service for off-label medicines for rare (neuromuscular) diseases

Multiplex Newborn Screening for Lysosomal Storage Disorders: Feasibility Is Growing but Prediction of Phenotype Needs Elucidation

Histopathology of Murine Ankylosing Enthesopathy

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