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Pascale Saugier-Veber

Showing results (1-10 of 95) with videos related to

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Presse Medicale (Paris, France : 1983)|November 28, 2012
Polyglandular autoimmune syndrome type IEmmanuelle Proust-Lemoine, Pascale Saugier-Veber, Jean-Louis Wémeau
Archives of Neurology|June 11, 2008
Large CACNA1A deletion in a family with episodic ataxia type 2Florence Riant, Reda Mourtada, Pascale Saugier-Veber, et al.
Neurogenetics|April 19, 2013
CCM molecular screening in a diagnosis context: novel unclassified variants leading to abnormal splicing and importance of large deletionsFlorence Riant, Michaelle Cecillon, Pascale Saugier-Veber, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|January 17, 2009
Myoclonus in fraternal twin toddlers: a French family with a novel mutation in the SGCE geneSusanne Thümmler, Fabienne Giuliano, Olivier Pincemaille, et al.
Cornea|June 27, 2015
Keratopathy in Autoimmune Polyendocrinopathy Syndrome Type 1Aude Couturier, Pascale Saugier-Veber, Jean-Claude Carel, et al.
Acta Neuropathologica|November 4, 2010
Role of cytoskeletal abnormalities in the neuropathology and pathophysiology of type I lissencephalyGaëlle Friocourt, Pascale Marcorelles, Pascale Saugier-Veber, et al.
Human Mutation|October 2, 2004
Molecular analysis of SMA patients without homozygous SMN1 deletions using a new strategy for identification of SMN1 subtle mutationsOlivier Clermont, Philippe Burlet, Paule Benit, et al.
Genetic Testing and Molecular Biomarkers|March 19, 2011
Development of a nonfluorescent multiplex semiquantitative polymerase chain reaction to confirm rearrangements detected by array-comparative genomic hybridizationVincent Huin, Nathalie Drouot, Pascal Chambon, et al.
Acta Neuropathologica|May 13, 2010
Evidence for tangential migration disturbances in human lissencephaly resulting from a defect in LIS1, DCX and ARX genesPascale Marcorelles, Annie Laquerrière, Christine Adde-Michel, et al.
Early Human Development|November 2, 2017
Neurodevelopmental outcome in prenatally diagnosed isolated agenesis of the corpus callosumLise Folliot-Le Doussal, Alexandra Chadie, Marie Brasseur-Daudruy, et al.
Pageof 10

Showing results (1-10 of 95) with videos related to

Sort By:
Pageof 10
Presse Medicale (Paris, France : 1983)|November 28, 2012
Polyglandular autoimmune syndrome type IEmmanuelle Proust-Lemoine, Pascale Saugier-Veber, Jean-Louis Wémeau
Archives of Neurology|June 11, 2008
Large CACNA1A deletion in a family with episodic ataxia type 2Florence Riant, Reda Mourtada, Pascale Saugier-Veber, et al.
Neurogenetics|April 19, 2013
CCM molecular screening in a diagnosis context: novel unclassified variants leading to abnormal splicing and importance of large deletionsFlorence Riant, Michaelle Cecillon, Pascale Saugier-Veber, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|January 17, 2009
Myoclonus in fraternal twin toddlers: a French family with a novel mutation in the SGCE geneSusanne Thümmler, Fabienne Giuliano, Olivier Pincemaille, et al.
Cornea|June 27, 2015
Keratopathy in Autoimmune Polyendocrinopathy Syndrome Type 1Aude Couturier, Pascale Saugier-Veber, Jean-Claude Carel, et al.
Acta Neuropathologica|November 4, 2010
Role of cytoskeletal abnormalities in the neuropathology and pathophysiology of type I lissencephalyGaëlle Friocourt, Pascale Marcorelles, Pascale Saugier-Veber, et al.
Human Mutation|October 2, 2004
Molecular analysis of SMA patients without homozygous SMN1 deletions using a new strategy for identification of SMN1 subtle mutationsOlivier Clermont, Philippe Burlet, Paule Benit, et al.
Genetic Testing and Molecular Biomarkers|March 19, 2011
Development of a nonfluorescent multiplex semiquantitative polymerase chain reaction to confirm rearrangements detected by array-comparative genomic hybridizationVincent Huin, Nathalie Drouot, Pascal Chambon, et al.
Acta Neuropathologica|May 13, 2010
Evidence for tangential migration disturbances in human lissencephaly resulting from a defect in LIS1, DCX and ARX genesPascale Marcorelles, Annie Laquerrière, Christine Adde-Michel, et al.
Early Human Development|November 2, 2017
Neurodevelopmental outcome in prenatally diagnosed isolated agenesis of the corpus callosumLise Folliot-Le Doussal, Alexandra Chadie, Marie Brasseur-Daudruy, et al.
Pageof 10