Karen Rouault

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Karen Rouault

Publications by authors named "Karen Rouault"

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7Publications

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A founder mutation underlies a severe form of phosphoglutamase 3 (PGM3) deficiency in Tunisian patients.

Mol Immunol 2017 Oct 10;90:57-63. Epub 2017 Jul 10.

Laboratory of Transmission, Control and Immunobiology of Infections (LR11IPT02), Tunis, Tunisia; Université Tunis El Manar, 1068 Tunis, Tunisia.

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October 2017

A genetic overview of Atlantic coastal populations from Europe and North-West Africa based on a 17 X-STR panel.

Forensic Sci Int Genet 2017 03 30;27:167-171. Epub 2016 Nov 30.

BIOMICs Research Group, Lascaray Research Center, University of the Basque Country UPV/EHU. Avda. Miguel de Unamuno, 3, 01006 Vitoria-Gasteiz, Spain. Electronic address:

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March 2017

A Founder Effect of c.257 + 2T > C Mutation in NCF2 Gene Underlies Severe Chronic Granulomatous Disease in Eleven Patients.

J Clin Immunol 2016 Aug 25;36(6):547-54. Epub 2016 May 25.

Laboratory of Transmission, Control and Immunobiology of Infections (LTCII), LR11IPT02, Institut Pasteur de Tunis, Pasteur, 1002, Tunis-Belvedere, Tunisia.

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August 2016

Evidence for the high importance of co-morbid factors in HFE C282Y/H63D patients cared by phlebotomies: results from an observational prospective study.

PLoS One 2013 5;8(12):e81128. Epub 2013 Dec 5.

Inserm, UMR 1078, Brest, France ; Université de Bretagne Occidentale, Brest, France ; Etablissement Français du Sang - Bretagne, Brest, France ; CHRU Brest, Hôpital Morvan, Laboratoire d'hygiène et de santé publique, Brest, France.

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March 2015

A missense mutation in the alpha-actinin 1 gene (ACTN1) is the cause of autosomal dominant macrothrombocytopenia in a large French family.

PLoS One 2013 17;8(9):e74728. Epub 2013 Sep 17.

Institut National de la Santé et de la Recherche Médicale (INSERM), U1078, Brest, France ; Faculté de Médecine et des Sciences de la Santé, Université de Bretagne Occidentale (UBO), Brest, France ; Laboratoire de Génétique Moléculaire et d'Histocompatibilité, Centre Hospitalier Universitaire (CHU) Brest, Hôpital Morvan, Brest, France.

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June 2014