Publications

Skeletal muscle MRI of the lower limbs in congenital muscular dystrophy patients with novel POMT1 and POMT2 mutations.
Neuromuscul Disord 2014 Apr 28;24(4):321-4. Epub 2014 Jan 28.
Division of Neuropaediatrics, University of Basel Children's Hospital, Switzerland; Department of Neurology, University of Basel Hospital, Switzerland. Electronic address:


Odontogenic myxoma: diagnostic and therapeutic challenges in paediatric and adult patients--a case series and review of the literature.
J Craniomaxillofac Surg 2012 Apr 31;40(3):271-6. Epub 2011 May 31.
Department of Cranio-Maxillofacial Surgery (Head: Prof. Hans-Florian Zeilhofer), University Hospital Basel, Spitalstrasse 21, Basel, Switzerland.

Panhypopituitarism presenting as life-threatening heart failure caused by an inherited microdeletion in 1q25 including LHX4.
Pediatrics 2012 Feb 9;129(2):e529-34. Epub 2012 Jan 9.
Division of Medical Genetics, University Children's Hospital and Department of Biomedicine, Burgfelderstrasse 101, Building J, CH- 4055 Basel, Switzerland.

Pyridoxal phosphate-responsive seizures in a patient with cerebral folate deficiency (CFD) and congenital deafness with labyrinthine aplasia, microtia and microdontia (LAMM).
Mol Genet Metab 2011 Nov 2;104(3):362-8. Epub 2011 Jun 2.
Division of Pediatric Neurology and Developmental Medicine, University Children's Hospital, Basel, Switzerland.


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