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	1.	Polyglandular autoimmune syndrome type I. [electronic resource] by Proust-Lemoine, Emmanuelle Saugier-Veber, Pascale Wémeau, Jean-Louis Producer: 20130211 In: Presse medicale (Paris, France : 1983) vol. 41 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2.	Large CACNA1A deletion in a family with episodic ataxia type 2. [electronic resource] by Riant, Florence Mourtada, Reda Saugier-Veber, Pascale Tournier-Lasserve, Elisabeth Producer: 20080626 In: Archives of neurology vol. 65 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3.	CCM molecular screening in a diagnosis context: novel unclassified variants leading to abnormal splicing and importance of large deletions. [electronic resource] by Riant, Florence Cecillon, Michaelle Saugier-Veber, Pascale Tournier-Lasserve, Elisabeth Producer: 20131218 In: Neurogenetics vol. 14 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4.	Myoclonus in fraternal twin toddlers: a French family with a novel mutation in the SGCE gene. [electronic resource] by Thümmler, Susanne Giuliano, Fabienne Pincemaille, Olivier Saugier-Veber, Pascale Perelman, Serge Producer: 20100114 In: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society vol. 13 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5.	Keratopathy in Autoimmune Polyendocrinopathy Syndrome Type 1. [electronic resource] by Couturier, Aude Saugier-Veber, Pascale Carel, Jean-Claude Bertherat, Jérôme Brézin, Antoine P Producer: 20160315 In: Cornea vol. 34 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	6.	Factor V Cambridge mutation and activated protein C resistance assays. [electronic resource] by Le Cam-Duchez, Véronique Chrétien, Marie-Hélène Saugier-Veber, Pascale Borg, Jeanne-Yvonne Producer: 20060427 In: Thrombosis and haemostasis vol. 95 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	7.	Role of cytoskeletal abnormalities in the neuropathology and pathophysiology of type I lissencephaly. [electronic resource] by Friocourt, Gaëlle Marcorelles, Pascale Saugier-Veber, Pascale Quille, Marie-Lise Marret, Stephane Laquerrière, Annie Producer: 20110427 In: Acta neuropathologica vol. 121 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	8.	Molecular analysis of SMA patients without homozygous SMN1 deletions using a new strategy for identification of SMN1 subtle mutations. [electronic resource] by Clermont, Olivier Burlet, Philippe Benit, Paule Chanterau, Dominique Saugier-Veber, Pascale Munnich, Arnold Cusin, Veronica Producer: 20050729 In: Human mutation vol. 24 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	9.	Cardiac conduction alterations in a French family with amyloidosis of the Finnish type with the p.Asp187Tyr mutation in the GSN gene. [electronic resource] by Chastan, Nathalie Baert-Desurmont, Stéphanie Saugier-Veber, Pascale Dérumeaux, Geneviève Cabot, Annick Frébourg, Thierry Hannequin, Didier Producer: 20060317 In: Muscle & nerve vol. 33 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	10.	Evidence for tangential migration disturbances in human lissencephaly resulting from a defect in LIS1, DCX and ARX genes. [electronic resource] by Marcorelles, Pascale Laquerrière, Annie Adde-Michel, Christine Marret, Stéphane Saugier-Veber, Pascale Beldjord, Chérif Friocourt, Gaëlle Producer: 20101203 In: Acta neuropathologica vol. 120 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	11.	Prenatal Three-Dimensional Ultrasound Detection of Adducted Thumbs in X-Linked Hydrocephaly: Two Case Reports with Molecular Genetic Studies. [electronic resource] by Corral, Edgardo Barrios, Andres Isnard, Monica Saugier-Veber, Pascale Fortier, Sophie M Durrin, Sarah Sepulveda, Waldo Producer: 20150616 In: Case reports in obstetrics and gynecology vol. 2015 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	12.	Development of a nonfluorescent multiplex semiquantitative polymerase chain reaction to confirm rearrangements detected by array-comparative genomic hybridization. [electronic resource] by Huin, Vincent Drouot, Nathalie Chambon, Pascal Le Meur, Nathalie Frébourg, Thierry Tosi, Mario Saugier-Veber, Pascale Producer: 20111115 In: Genetic testing and molecular biomarkers vol. 15 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	13.	Neurodevelopmental outcome in prenatally diagnosed isolated agenesis of the corpus callosum. [electronic resource] by Folliot-Le Doussal, Lise Chadie, Alexandra Brasseur-Daudruy, Marie Verspyck, Eric Saugier-Veber, Pascale Marret, Stéphane Producer: 20181119 In: Early human development vol. 116 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	14.	Human lissencephaly with cerebellar hypoplasia due to mutations in TUBA1A: expansion of the foetal neuropathological phenotype. [electronic resource] by Lecourtois, Magalie Poirier, Karine Friocourt, Gaëlle Jaglin, Xavier Goldenberg, Alice Saugier-Veber, Pascale Chelly, Jamel Laquerrière, Annie Producer: 20100824 In: Acta neuropathologica vol. 119 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	15.	Foetal presentation of cartilage hair hypoplasia with extensive granulomatous inflammation. [electronic resource] by Crahes, Marie Saugier-Veber, Pascale Patrier, Sophie Aziz, Moutaz Pirot, Nathalie Brasseur-Daudruy, Marie Layet, Valérie Frébourg, Thierry Laquerrière, Annie Producer: 20140128 In: European journal of medical genetics vol. 56 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	16.	Myoclonus dystonia plus syndrome due to a novel 7q21 microdeletion. [electronic resource] by Saugier-Veber, Pascale Doummar, Diane Barthez, Marie-Anne Czernecki, Virginie Drouot, Nathalie Apartis, Emmanuelle Bürglen, Lydie Frebourg, Thierry Roze, Emmanuel Producer: 20100812 In: American journal of medical genetics. Part A vol. 152A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	17.	Pontocerebellar hypoplasia with rhombencephalosynapsis and microlissencephaly expands the spectrum of PCH type 1B. [electronic resource] by Saugier-Veber, Pascale Marguet, Florent Vezain, Myriam Bucourt, Martine Letard, Pascaline Delahaye, Andrée Pipiras, Eva Frébourg, Thierry Gonzalez, Bruno Laquerrière, Annie Producer: 20201231 In: European journal of medical genetics vol. 63 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	18.	Polyvalvular heart disease with joint hypermobility, characteristic facies, and particular skin abnormalities: new cases of "polyvalvular heart disease syndrome" or new association? [electronic resource] by Edouard, Thomas Prost-Squarcioni, Catherine Dulac, Yves Vaysse, Frédéric Cavé, Hélène Saugier-Veber, Pascale Bourrouillou, Georges Verloes, Alain Tauber, Maithé Bieth, Eric Producer: 20100416 In: European journal of medical genetics vol. 53 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	19.	Presence of autism, hyperserotonemia, and severe expressive language impairment in Williams-Beuren syndrome. [electronic resource] by Tordjman, Sylvie Anderson, George M Cohen, David Kermarrec, Solenn Carlier, Michèle Touitou, Yvan Saugier-Veber, Pascale Lagneaux, Céline Chevreuil, Claire Verloes, Alain Producer: 20130829 In: Molecular autism vol. 4 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	20.	A rare SMN2 variant in a previously unrecognized composite splicing regulatory element induces exon 7 inclusion and reduces the clinical severity of spinal muscular atrophy. [electronic resource] by Vezain, Myriam Saugier-Veber, Pascale Goina, Elisa Touraine, Renaud Manel, Véronique Toutain, Annick Fehrenbach, Séverine Frébourg, Thierry Pagani, Franco Tosi, Mario Martins, Alexandra Producer: 20100312 In: Human mutation vol. 31 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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Your search returned 65 results.