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Genetics and genomics

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TitleAuthorDate
Bio-Plex immunoassay measuring the quantity of lysosomal N-acetylgalactosamine-6-sulfatase protein in dried blood spots for the screening of mucopolysaccharidosis IVA in newborn: a pilot study

Chih-Kuang Chuang, Hsiang-Yu Lin, Tuan-Jen Wang, Sung-Fa Huang, Shuan-Pei Lin

13 July 2017

Validation of a clinical screening instrument for tumour predisposition syndromes in patients with childhood cancer (TuPS): protocol for a prospective, observational, multicentre study

Floor A M Postema, Saskia M J Hopman, Corianne A J M de Borgie, Peter Hammond, Raoul C Hennekam, Johannes H M Merks, on behalf of the TuPS study group, Cora M Aalfs, Jakob K Anninga, Lieke PV Berger, Fonnet E Bleeker, Eveline SJM de Bont, Corianne AJM de Borgie, Charlotte J Dommering, Natasha KA van Eijkelenburg, Peter Hammond, Raoul C Hennekam, Marry M van den Heuvel-Eibrink, Saskia MJ Hopman, Marjolijn CJ Jongmans, Wijnanda A Kors, Tom GW Letteboer, Jan LCM Loeffen, Johannes HM Merks, Maran JW Olderode-Berends, Floor AM Postema, Anja Wagner

20 January 2017

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