Table of contents

Original articles

• Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome (15 April, 2009)

  B W M van Bon, H C Mefford, B Menten, D A Koolen, A J Sharp, W M Nillesen, J W Innis, T J L de Ravel, C L Mercer, M Fichera, H Stewart, L E Connell, K Õunap, K Lachlan, B Castle, N Van der Aa, C van Ravenswaaij, M A Nobrega, C Serra-Juhé, I Simonic, N de Leeuw, R Pfundt, E M Bongers, C Baker, P Finnemore, S Huang, V K Maloney, J A Crolla, M van Kalmthout, M Elia, G Vandeweyer, J P Fryns, S Janssens, N Foulds, S Reitano, K Smith, S Parkel, B Loeys, C G Woods, A Oostra, F Speleman, A C Pereira, A Kurg, L Willatt, S J L Knight, J R Vermeesch, C Romano, J C Barber, G Mortier, L A Pérez-Jurado, F Kooy, H G Brunner, E E Eichler, T Kleefstra, B B A de Vries
• 17q21.31 microduplication patients are characterised by behavioural problems and poor social interaction (4 June, 2009)

  B Grisart, L Willatt, A Destrée, J-P Fryns, K Rack, T de Ravel, J Rosenfeld, J R Vermeesch, C Verellen-Dumoulin, R Sandford
• High resolution array analysis: diagnosing pregnancies with abnormal ultrasound findings (17 May, 2009)

  M Tyreman, K M Abbott, L R Willatt, R Nash, C Lees, J Whittaker, I Simonic
• In vitro splicing analysis showed that availability of a cryptic splice site is not a determinant for alternative splicing patterns caused by +1G→A mutations in introns of the dystrophin gene (10 November, 2008)

  Y Habara, Y Takeshima, H Awano, Y Okizuka, Z Zhang, K Saiki, M Yagi, M Matsuo
• Natural course of Fabry disease: changing pattern of causes of death in FOS – Fabry Outcome Survey (26 May, 2009)

  A Mehta, J T R Clarke, R Giugliani, P Elliott, A Linhart, M Beck, G Sunder-Plassmann