Genetics and genomics

Fabry disease due to D313Y and novel GLA mutations

Konstantinos Koulousios, Konstantinos Stylianou, Panagiotis Pateinakis, Maria Zamanakou, Gedeon Loules, Eleni Manou, Parthena Kyriklidou, Christos Katsinas, Alexandra Ouzouni, John Kyriazis, Matthaios Speletas, Anastasios E Germenis

10.1136/bmjopen-2017-017098

October 6, 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

10.1136/bmjopen-2016-013237

January 20, 2017