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Author/Creator van de Vorst, Maartje

1. Cost‐effective molecular inversion probe‐based ABCA4 sequencing reveals deep‐intronic variants in Stargardt disease. Issue 10 (18th June 2019)

Authors:
Khan, Mubeen; Cornelis, Stéphanie S.; Khan, Muhammad Imran; Elmelik, Duaa; Manders, Eline; Bakker, Sem; Derks, Ronny; Neveling, Kornelia; van de Vorst, Maartje; Gilissen, Christian; Meunier, Isabelle; Defoort, Sabine; Puech, Bernard; Devos, Aurore; Schulz, Heidi L.; Stöhr, Heidi; Grassmann, Felix...
Journal:
Human mutation
Issue:
Volume 40:Issue 10(2019)
Page Start:
1749
Record Type:
Journal Article
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2. Next‐generation metabolic screening: targeted and untargeted metabolomics for the diagnosis of inborn errors of metabolism in individual patients. Issue 3 (16th February 2018)

Authors:
Coene, Karlien L. M.; Kluijtmans, Leo A. J.; van der Heeft, Ed; Engelke, Udo F. H.; de Boer, Siebolt; Hoegen, Brechtje; Kwast, Hanneke J. T.; van de Vorst, Maartje; Huigen, Marleen C. D. G.; Keularts, Irene M. L. W.; Schreuder, Michiel F.; van Karnebeek, Clara D. M.; Wortmann, Saskia B.; de Vries...
Journal:
Journal of inherited metabolic disease
Issue:
Volume 41:Issue 3(2018)
Page Start:
337
Record Type:
Journal Article
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3. Rare genetic variants in interleukin-37 link this anti-inflammatory cytokine to the pathogenesis and treatment of gout. Issue 4 (29th February 2020)

Authors:
Klück, Viola; van Deuren, Rosanne C; Cavalli, Giulio; Shaukat, Amara; Arts, Peer; Cleophas, Maartje C; Crișan, Tania O; Tausche, Anne-Kathrin; Riches, Philip; Dalbeth, Nicola; Stamp, Lisa K; Hindmarsh, Jennie Harré; Jansen, Tim L Th A; Janssen, Matthijs; Steehouwer, Marloes; Lelieveld, Stefan; va...
Journal:
Annals of the rheumatic diseases
Issue:
Volume 79:Issue 4(2020)
Page Start:
536
Record Type:
Journal Article
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4. Using single molecule Molecular Inversion Probes as a cost‐effective, high‐throughput sequencing approach to target all genes and loci associated with macular diseases. Issue 12 (31st October 2022)

Authors:
Hitti‐Malin, Rebekkah J.; Dhaenens, Claire‐Marie; Panneman, Daan M.; Corradi, Zelia; Khan, Mubeen; den Hollander, Anneke I.; Farrar, G. Jane; Gilissen, Christian; Hoischen, Alexander; van de Vorst, Maartje; Bults, Femke; Boonen, Erica G. M.; Saunders, Patrick; Roosing, Susanne; Cremers, Frans P. M.
Journal:
Human mutation
Issue:
Volume 43:Issue 12(2022)
Page Start:
2234
Record Type:
Journal Article
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5. Validation and application of a novel integrated genetic screening method to a cohort of 1, 112 men with idiopathic azoospermia or severe oligozoospermia. Issue 11 (6th September 2017)

Authors:
Oud, Manon S.; Ramos, Liliana; O'Bryan, Moira K.; McLachlan, Robert I.; Okutman, Özlem; Viville, Stephane; de Vries, Petra F.; Smeets, Dominique F.C.M.; Lugtenberg, Dorien; Hehir‐Kwa, Jayne Y.; Gilissen, Christian; van de Vorst, Maartje; Vissers, Lisenka E.L.M.; Hoischen, Alexander; Meijerink, Au...
Journal:
Human mutation
Issue:
Volume 38:Issue 11(2017)
Page Start:
1592
Record Type:
Journal Article
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