Publications by authors named "Hubertus J M Smeets"

3Publications

Yield of peripheral sodium channels gene screening in pure small fibre neuropathy.

Authors:
Ivo Eijkenboom Maurice Sopacua Janneke G J Hoeijmakers Bianca T A de Greef Patrick Lindsey Rowida Almomani Margherita Marchi Jo Vanoevelen Hubertus J M Smeets Stephen G Waxman Giuseppe Lauria Ingemar S J Merkies Catharina G Faber Monique M Gerrits

J Neurol Neurosurg Psychiatry 2019 03 15;90(3):342-352. Epub 2018 Dec 15.

Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, The Netherlands

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March 2019

No Fabry Disease in Patients Presenting with Isolated Small Fiber Neuropathy.

Authors:
Bianca T A de Greef Janneke G J Hoeijmakers Emma E Wolters Hubertus J M Smeets Arthur van den Wijngaard Ingemar S J Merkies Catharina G Faber Monique M Gerrits

PLoS One 2016 11;11(2):e0148316. Epub 2016 Feb 11.

Department of Neurology, Spaarne hospital, Hoofddorp, The Netherlands.

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July 2016

A patient with a mild holoprosencephaly spectrum phenotype and heterotaxy and a 1.3 Mb deletion encompassing GLI2.

Authors:
Sietske H G Kevelam Jeske J T van Harssel Bert van der Zwaag Hubertus J M Smeets Aimee D C Paulussen Klaske D Lichtenbelt

Am J Med Genet A 2012 Jan 21;158A(1):166-73. Epub 2011 Nov 21.

Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.

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January 2012