Publications by authors named "Genevieve Pierquin"

13Publications

Hemiplegic Migraine Presenting with Prolonged Somnolence: A Case Report.

Case Rep Neurol 2016 Sep-Dec;8(3):204-210. Epub 2016 Oct 3.

Department of Neurology, Centre Hospitalier de Luxembourg, Luxembourg, Luxembourg.

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http://dx.doi.org/10.1159/000448473DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5075733PMC
October 2016

A new 48, XXYY/47, XYY syndrome associated with multiple skeletal abnormalities, congenital heart disease and mental retardation.

Indian J Hum Genet 2012 Sep;18(3):352-5

Laboratory of Medical Genetics, Faculty of Medicine, National University of Rwanda, Rwanda, East Africa ; Center for Human Genetics, CHU Sart-Tilman, University of Liege, 4000 Liege, Belgium.

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http://dx.doi.org/10.4103/0971-6866.108033DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3656528PMC
September 2012

Spinocerebellar ataxia type 2 (SCA2): clinical features and genetic analysis.

J Trop Pediatr 2008 Oct 22;54(5):350-2. Epub 2008 May 22.

Medical Genetics Laboratory, National University of Rwanda, CHU of Butare, Rwanda.

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http://dx.doi.org/10.1093/tropej/fmn034DOI Listing
October 2008

Germline PTPN11 missense mutation in a case of Noonan syndrome associated with mediastinal and retroperitoneal neuroblastic tumors.

Cancer Genet Cytogenet 2008 Apr;182(1):40-2

Center for Human Genetics, University Hospital Center-CHU Sart-Tilman, University of Liège, 4000 Liège, Belgium.

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http://dx.doi.org/10.1016/j.cancergencyto.2007.12.005DOI Listing
April 2008

Molecular analysis in two siblings African patients with severe form of Hunter Syndrome: identification of a novel (p.Y54X) nonsense mutation.

J Trop Pediatr 2007 Dec 5;53(6):434-7. Epub 2007 Jul 5.

Center for Human Genetics, CHU Sart-Tilman, University of Liège, Belgium.

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http://dx.doi.org/10.1093/tropej/fmm056DOI Listing
December 2007