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

di Vrinten, Charlotte, van der Zwaag, Angeli M, Weinreich, Stephanie S, Scholten, Rob JPM, Verschuuren, Jan JGM
Pubblicato in Cochrane Database Syst Rev (2014)

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

di Gaasterland, Charlotte M. W., Jansen-van der Weide, Marijke C., Weinreich, Stephanie S., van der Lee, Johanna H.
Pubblicato in BMC Med Res Methodol (2016)

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 provi...

di Cornel Martina C, Rijmen Frank, de Lange-de Klerk Elly SM, Weinreich Stephanie S, de Kinderen Marja, Plass Anne
Pubblicazione 2009-09-01

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

di van El, Carla G, Rigter, Tessel, Reuser, Arnold JJ, van der Ploeg, Ans T, Weinreich, Stephanie S, Cornel, Martina C
Pubblicazione 2014

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 provi...

di Weinreich, Stephanie S, de Lange-de Klerk, Elly SM, Rijmen, Frank, Cornel, Martina C, de Kinderen, Marja, Plass, Anne Marie C
Pubblicazione 2009

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

di Vrinten, Charlotte, Gu, Xin, Weinreich, Stephanie S, Schipper, Mirjam H, Wessels, Judith, Ferrari, Michel D, Hoijtink, Herbert, Verschuuren, Jan J G M
Pubblicato in J Neurol Neurosurg Psychiatry (2016)

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

di Cornel, Martina C, Rigter, Tessel, Weinreich, Stephanie S, Burgard, Peter, Hoffmann, Georg F, Lindner, Martin, Gerard Loeber, J, Rupp, Kathrin, Taruscio, Domenica, Vittozzi, Luciano
Pubblicazione 2014

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

di Weinreich, Stephanie S, Bosma, Astrid, Henneman, Lidewij, Rigter, Tessel, Spruijt, Carla MJ, Grimbergen, Anneliese JEMA, Breuning, Martijn H, de Koning, Eelco JP, Losekoot, Monique, Cornel, Martina C
Pubblicato in Eur J Hum Genet (2015)

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

di Weinreich, Stephanie Shifra, Rigter, Tessel, van El, Carla Geertruida, Dondorp, Wybo Jan, Kostense, Pieter Johannes, van der Ploeg, Ans T, Reuser, Arnold JJ, Cornel, Martina Cornelia, Hagemans, Marloes Louise Catharina
Pubblicazione 2012

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

di Vrinten, Charlotte, Lipka, Alexander F, van Zwet, Erik W, Schimmel, Kirsten J M, Cornel, Martina C, Kuijpers, Marja R, Hekster, Yechiel A, Weinreich, Stephanie S, Verschuuren, Jan J G M
Pubblicato in BMJ Open (2015)

Population-based incidence and prevalence of facioscapulohumeral dystrophy

di Deenen, Johanna C.W., Arnts, Hisse, van der Maarel, Silvère M., Padberg, George W., Verschuuren, Jan J.G.M., Bakker, Egbert, Weinreich, Stephanie S., Verbeek, André L.M., van Engelen, Baziel G.M.
Pubblicazione 2014

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

di Weinreich, Stephanie S, Vrinten, Charlotte, Verschuuren, Jan JGM, Uyl-de Groot, Carin A, Kuijpers, Marja R, Sterrenburg, Ellen, Scholten, Rob JPM, van Bezooijen, Cees FRM, Timmen, Marcel FTH, van Weely, Sonja, Cornel, Martina C
Pubblicazione 2012

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

di Weinreich, Stephanie S., Vrinten, Charlotte, Kuijpers, Marja R., Lipka, Alexander F., Schimmel, Kirsten J. M., van Zwet, Erik W., Gispen-de Wied, Christine, Hekster, Yechiel A., Verschuuren, Jan J. G. M., Cornel, Martina C.
Pubblicato in Orphanet J Rare Dis (2017)

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

di Vandermeer, Ben, van der Tweel, Ingeborg, Jansen-van der Weide, Marijke C., Weinreich, Stephanie S., Contopoulos-Ioannidis, Despina G., Bassler, Dirk, Fernandes, Ricardo M., Askie, Lisa, Saloojee, Haroon, Baiardi, Paola, Ellenberg, Susan S., van der Lee, Johanna H.
Pubblicato in BMC Med Res Methodol (2018)