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

Por Gaasterland, Charlotte M. W., Jansen-van der Weide, Marijke C., Weinreich, Stephanie S., van der Lee, Johanna H.
Publicado no 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...

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

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

Por van El, Carla G, Rigter, Tessel, Reuser, Arnold JJ, van der Ploeg, Ans T, Weinreich, Stephanie S, Cornel, Martina C
Publicado em 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...

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

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

Por Vrinten, Charlotte, Gu, Xin, Weinreich, Stephanie S, Schipper, Mirjam H, Wessels, Judith, Ferrari, Michel D, Hoijtink, Herbert, Verschuuren, Jan J G M
Publicado no J Neurol Neurosurg Psychiatry (2016)

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

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

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

Por 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
Publicado no Eur J Hum Genet (2015)

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

Por 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
Publicado em 2012

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

Por 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
Publicado no BMJ Open (2015)

Population-based incidence and prevalence of facioscapulohumeral dystrophy

Por 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.
Publicado em 2014

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

Por 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
Publicado em 2012