Population based epidemiology of amyotrophic lateral sclerosis using capture–recapture methodology von Huisman, Mark H B, de Jong, Sonja W, van Doormaal, Perry T C, Weinreich, Stephanie S, Schelhaas, H Jurgen, van der Kooi, Anneke J, de Visser, Marianne, Veldink, Jan H, van den Berg, Leonard H

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Population-based incidence and prevalence of facioscapulohumeral dystrophy von 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

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A framework to start the debate on neonatal screening policies in the EU: an Expert Opinion Document von Cornel, Martina C, Rigter, Tessel, Weinreich, Stephanie S, Burgard, Peter, Hoffmann, Georg F, Lindner, Martin, Gerard Loeber, J, Rupp, Kathrin, Taruscio, Domenica, Vittozzi, Luciano

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A systematic review to investigate the measurement properties of goal attainment scaling, towards use in drug trials von Gaasterland, Charlotte M W, Jansen-van der Weide, Marijke C, Weinreich, Stephanie S, van der Lee, Johanna H

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Ephedrine treatment for autoimmune myasthenia gravis von Lipka, Alexander F., MD, Vrinten, Charlotte, MSc, van Zwet, Erik W, PhD, Schimmel, Kirsten JM, PhD, Cornel, Martina C, MD, PhD, Kuijpers, Marja R, Hekster, Yechiel A, PhD, Weinreich, Stephanie S, PhD, Verschuuren, Jan JGM, MD, PhD

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A genetic diagnosis of maturity-onset diabetes of the young (MODY): experiences of patients and family members von Bosma, A. R., Rigter, T., Weinreich, S. S., Cornel, M. C., Henneman, L.

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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 von 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

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

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Moving somatic gene editing to the clinic: routes to market access and reimbursement in Europe von Rigter, Tessel, Klein, David, Weinreich, Stephanie S, Cornel, Martina C

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Newborn screening programmes in Europe; arguments and efforts regarding harmonization. Part 1 - From blood spot to screening result von Loeber, J. Gerard, Burgard, Peter, Cornel, Martina C., Rigter, Tessel, Weinreich, Stephanie S., Rupp, Kathrin, Hoffmann, Georg F., Vittozzi, Luciano

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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 von Burgard, Peter, Rupp, Kathrin, Lindner, Martin, Haege, Gisela, Rigter, Tessel, Weinreich, Stephanie S., Loeber, J. Gerard, Taruscio, Domenica, Vittozzi, Luciano, Cornel, Martina C., Hoffmann, Georg F.

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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 provi... von Weinreich, Stephanie S, de Lange-de Klerk, Elly Sm, Rijmen, Frank, Cornel, Martina C, de Kinderen, Marja, Plass, Anne Marie C

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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... von de Smit, Denhard J, Weinreich, Stephanie S, Cornel, Martina C

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An n-of-one RCT for intravenous immunoglobulin G for inflammation in hereditary neuropathy with liability to pressure palsy (HNPP) von Vrinten, Charlotte, Gu, Xin, Weinreich, Stephanie S, Schipper, Mirjam H, Wessels, Judith, Ferrari, Michel D, Hoijtink, Herbert, Verschuuren, Jan J G M

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Newborn Screening for Hunter Disease: A Small-Scale Feasibility Study von Ruijter, G J G, Goudriaan, D A, Boer, A M, Van den Bosch, J, Van der Ploeg, A T, Elvers, L H, Weinreich, S S, Reuser, A J

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A decade of molecular genetic testing for MODY: a retrospective study of utilization in The Netherlands von Weinreich, Stephanie S, Bosma, Astrid, Henneman, Lidewij, Rigter, Tessel, Spruijt, Carla M J, Grimbergen, Anneliese J E M A, Breuning, Martijn H, de Koning, Eelco J P, Losekoot, Monique, Cornel, Martina C

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Ephedrine for myasthenia gravis, neonatal myasthenia and the congenital myasthenic syndromes von Vrinten, Charlotte, van der Zwaag, Angeli M, Weinreich, Stephanie S, Scholten, Rob JPM, Verschuuren, Jan JGM, Weinreich, Stephanie S

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Current and Best Practices of Genetic Testing for Maturity Onset Diabetes of the Young: Views of Professional Experts von van der Zwaag, Angeli M., Weinreich, Stephanie S., Bosma, Astrid R., Rigter, Tessel, Losekoot, Monique, Henneman, Lidewij, Cornel, Martina C.

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Influenza vaccine effectiveness in adults 65 years and older, Denmark, 2015/16 - a rapid epidemiological and virological assessment von Emborg, Hanne Dorthe, Krause, Tyra Grove, Nielsen, Lene, Thomsen, Marianne Kragh, Christiansen, Claus Bohn, Skov, Marianne Nielsine, Nielsen, Xiaohui Chen, Weinreich, Lenette Sandborg, Fischer, Thea Kølsen, Rønn, Jesper, Trebbien, Ramona

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Mothers’ Views on Longer Storage of Neonatal Dried Blood Spots for Specific Secondary Uses von van Teeffelen, Sarah R., Douglas, Conor M.W., van El, Carla G., Weinreich, Stephanie S., Henneman, Lidewij, Radstake, Maud, Cornel, Martina C.

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