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	1.	Traumatic brain injury and olfactory deficits: the tale of two smell tests! [electronic resource] by Fortin, Audrey Lefebvre, Mathilde Beaulieu Ptito, Maurice Producer: 20100805 In: Brain injury vol. 24 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2.	Odor perception and odor awareness in congenital blindness. [electronic resource] by Beaulieu-Lefebvre, Mathilde Schneider, Fabien C Kupers, Ron Ptito, Maurice Producer: 20120103 In: Brain research bulletin vol. 84 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3.	High prevalence of cross-resistance to fluoroquinolone and cotrimoxazole in tetracycline-resistant Escherichia coli human clinical isolates. [electronic resource] by Batard, Eric Lefebvre, Mathilde Aubin, Guillaume Ghislain Caroff, Nathalie Corvec, Stéphane Producer: 20170308 In: Journal of chemotherapy (Florence, Italy) vol. 28 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4.	Selective mitochondrial DNA degradation following double-strand breaks. [electronic resource] by Moretton, Amandine Morel, Frédéric Macao, Bertil Lachaume, Philippe Ishak, Layal Lefebvre, Mathilde Garreau-Balandier, Isabelle Vernet, Patrick Falkenberg, Maria Farge, Géraldine Producer: 20170908 In: PloS one vol. 12 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5.	DNA maintenance following bleomycin-induced strand breaks does not require poly(ADP-ribosyl)ation activation in Drosophila S2 cells. [electronic resource] by Ishak, Layal Moretton, Amandine Garreau-Balandier, Isabelle Lefebvre, Mathilde Alziari, Serge Lachaume, Philippe Morel, Frédéric Farge, Géraldine Vernet, Patrick Dubessay, Pascal Producer: 20170515 In: DNA repair vol. 48 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	6.	Prenatal ultrasonography of autosomal dominant polycystic kidney disease mimicking recessive type: case series. [electronic resource] by Garel, Juliette Lefebvre, Mathilde Cassart, Marie Della Valle, Valeria Guilbaud, Lucie Jouannic, Jean-Marie Ducou le Pointe, Hubert Blondiaux, Eléonore Garel, Catherine Producer: 20200416 In: Pediatric radiology vol. 49 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	7.	TRAP Sequence in Monochorionic/Monoamniotic (MC/MA) Discordant Twins: Two Cases Treated with Fetoscopic Laser Surgery. [electronic resource] by Tonni, Gabriele Grisolia, Gianpaolo Zampriolo, Paolo Prefumo, Federico Fichera, Anna Bonasoni, Paola Lefebvre, Mathilde Khung-Savatovsky, Suonavy Guimiot, Fabien Rosenblatt, Jonathan Araujo Júnior, Edward Producer: 20190704 In: Fetal and pediatric pathology vol. 37 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	8.	A comprehensive approach to determining BER capacities and their change with aging in Drosophila melanogaster mitochondria by oligonucleotide microarray. [electronic resource] by Garreau-Balandier, Isabelle Lefebvre, Mathilde Jacquard, Sophie Caillat, Sylvain Cruz-Rodriguez, Luis Ishak, Layal Agier, Virginie Morel, Frédéric Lachaume, Philippe Dubessay, Pascal Sauvaigo, Sylvie Alziari, Serge Vernet, Patrick Producer: 20140627 In: FEBS letters vol. 588 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	9.	Prenatal presentation of Aicardi-Goutières syndrome: Nonspecific phenotype necessitates exome sequencing for definitive diagnosis. [electronic resource] by Bourgon, Nicolas Lefebvre, Mathilde Kuentz, Paul Thevenon, Julien Jouan, Thibaud Duffourd, Yannis Philippe, Christophe Tran Mau-Them, Frédéric Durand, Christine Harizay, Faratanjona Laurent, Nicole Rousseau, Thierry Faivre, Laurence Thauvin-Robinet, Christel Producer: 20200625 In: Prenatal diagnosis vol. 39 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	10.	Extending the ALDH18A1 clinical spectrum to severe autosomal recessive fetal cutis laxa with corpus callosum agenesis. [electronic resource] by Lefebvre, Mathilde Beaufrere, Anne-Marie Francannet, Christine Laurichesse, Helene Poe, Charlotte Jouan, Thibaud Troude, Baptiste Dechelotte, Pierre Vabres, Pierre Briard, Marie Mosca-Boidron, Anne-Laure Duffourd, Yannis Faivre, Laurence Thevenon, Julien Thauvin-Robinet, Christel Producer: 20190925 In: American journal of medical genetics. Part A vol. 176 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	11.	Fraser syndrome: features suggestive of prenatal diagnosis in a review of 38 cases. [electronic resource] by Tessier, Aude Sarreau, Mélie Pelluard, Fanny André, Gwenaelle Blesson, Sophie Bucourt, Martine Dechelotte, Pierre Faivre, Laurence Frébourg, Thierry Goldenberg, Alice Goua, Valérie Jeanne-Pasquier, Corinne Guimiot, Fabien Laquerriere, Annie Laurent, Nicole Lefebvre, Mathilde Loget, Philippe Maréchaud, Martine Mechler, Charlotte Perez, Marie-Josée Sabourin, Jean Christophe Verloes, Alain Patrier, Sophie Guerrot, Anne-Marie Producer: 20170726 In: Prenatal diagnosis vol. 36 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	12.	Mutations in the ERCC2 (XPD) gene associated with severe fetal ichthyosis and dysmorphic features. [electronic resource] by Miguet, Marguerite Thevenon, Julien Laugel, Vincent Lefebvre, Mathilde Bourchany, Aurélie Rivière, Jean-Baptiste Duffourd, Yannis Schaefer, Elise Antal, Maria Cristina Abida, Rosalie Weingertner, Anne-Sophie Kremer, Valérie Vabres, Pierre Morice-Picard, Fanny Gonzales, Marie Lipsker, Dan Fraitag, Sylvie Mandel, Jean-Louis Chelly, Jamel Dollfus, Hélène Faivre, Laurence Thauvin-Robinet, Christel Calmels, Nadège El Chehadeh, Salima Producer: 20170726 In: Prenatal diagnosis vol. 36 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	13.	2.5 years' experience of GeneMatcher data-sharing: a powerful tool for identifying new genes responsible for rare diseases. [electronic resource] by Bruel, Ange-Line Vitobello, Antonio Mau-Them, Frédéric Tran Nambot, Sophie Duffourd, Yannis Quéré, Virginie Kuentz, Paul Garret, Philippine Thevenon, Julien Moutton, Sébastien Lehalle, Daphné Jean-Marçais, Nolwenn Garde, Aurore Delanne, Julian Lefebvre, Mathilde Lecoquierre, François Trost, Detlef Cho, Megan Begtrup, Amber Telegrafi, Aida Vabres, Pierre Mosca-Boidron, Anne-Laure Callier, Patrick Philippe, Christophe Faivre, Laurence Thauvin-Robinet, Christel Producer: 20200128 In: Genetics in medicine : official journal of the American College of Medical Genetics vol. 21 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	14.	Clinical whole-exome sequencing for the diagnosis of rare disorders with congenital anomalies and/or intellectual disability: substantial interest of prospective annual reanalysis. [electronic resource] by Nambot, Sophie Thevenon, Julien Kuentz, Paul Duffourd, Yannis Tisserant, Emilie Bruel, Ange-Line Mosca-Boidron, Anne-Laure Masurel-Paulet, Alice Lehalle, Daphné Jean-Marçais, Nolwenn Lefebvre, Mathilde Vabres, Pierre El Chehadeh-Djebbar, Salima Philippe, Christophe Tran Mau-Them, Frederic St-Onge, Judith Jouan, Thibaud Chevarin, Martin Poé, Charlotte Carmignac, Virginie Vitobello, Antonio Callier, Patrick Rivière, Jean-Baptiste Faivre, Laurence Thauvin-Robinet, Christel Producer: 20181017 In: Genetics in medicine : official journal of the American College of Medical Genetics vol. 20 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	15.	Mutations in SLC13A5 cause autosomal-recessive epileptic encephalopathy with seizure onset in the first days of life. [electronic resource] by Thevenon, Julien Milh, Mathieu Feillet, François St-Onge, Judith Duffourd, Yannis Jugé, Clara Roubertie, Agathe Héron, Delphine Mignot, Cyril Raffo, Emmanuel Isidor, Bertrand Wahlen, Sandra Sanlaville, Damien Villeneuve, Nathalie Darmency-Stamboul, Véronique Toutain, Annick Lefebvre, Mathilde Chouchane, Mondher Huet, Frédéric Lafon, Arnaud de Saint Martin, Anne Lesca, Gaetan El Chehadeh, Salima Thauvin-Robinet, Christel Masurel-Paulet, Alice Odent, Sylvie Villard, Laurent Philippe, Christophe Faivre, Laurence Rivière, Jean-Baptiste Producer: 20140827 In: American journal of human genetics vol. 95 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	16.	9q33.3q34.11 microdeletion: new contiguous gene syndrome encompassing STXBP1, LMX1B and ENG genes assessed using reverse phenotyping. [electronic resource] by Nambot, Sophie Masurel, Alice El Chehadeh, Salima Mosca-Boidron, Anne-Laure Thauvin-Robinet, Christel Lefebvre, Mathilde Marle, Nathalie Thevenon, Julien Perez-Martin, Stéphanie Dulieu, Véronique Huet, Frédéric Plessis, Ghislaine Andrieux, Joris Jouk, Pierre-Simon Billy-Lopez, Gipsy Coutton, Charles Morice-Picard, Fanny Delrue, Marie-Ange Heron, Delphine Rooryck, Caroline Goldenberg, Alice Saugier-Veber, Pascale Joly-Hélas, Géraldine Calenda, Patricia Kuentz, Paul Manouvrier-Hanu, Sylvie Dupuis-Girod, Sophie Callier, Patrick Faivre, Laurence Producer: 20170726 In: European journal of human genetics : EJHG vol. 24 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	17.	Reducing diagnostic turnaround times of exome sequencing for families requiring timely diagnoses. [electronic resource] by Bourchany, Aurélie Thauvin-Robinet, Christel Lehalle, Daphné Bruel, Ange-Line Masurel-Paulet, Alice Jean, Nolwenn Nambot, Sophie Willems, Marjorie Lambert, Laetitia El Chehadeh-Djebbar, Salima Schaefer, Elise Jaquette, Aurélia St-Onge, Judith Poe, Charlotte Jouan, Thibaud Chevarin, Martin Callier, Patrick Mosca-Boidron, Anne-Laure Laurent, Nicole Lefebvre, Mathilde Huet, Frédéric Houcinat, Nada Moutton, Sébastien Philippe, Christophe Tran-Mau-Them, Frédéric Vitobello, Antonio Kuentz, Paul Duffourd, Yannis Rivière, Jean-Baptiste Thevenon, Julien Faivre, Laurence Producer: 20180112 In: European journal of medical genetics vol. 60 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	18.	Secondary actionable findings identified by exome sequencing: expected impact on the organisation of care from the study of 700 consecutive tests. [electronic resource] by Thauvin-Robinet, Christel Thevenon, Julien Nambot, Sophie Delanne, Julian Kuentz, Paul Bruel, Ange-Line Chassagne, Aline Cretin, Elodie Pelissier, Aurore Peyron, Chritine Gautier, Elodie Lehalle, Daphné Jean-Marçais, Nolwenn Callier, Patrick Mosca-Boidron, Anne-Laure Vitobello, Antonio Sorlin, Arthur Tran Mau-Them, Frédéric Philippe, Christophe Vabres, Pierre Demougeot, Laurent Poé, Charlotte Jouan, Thibaud Chevarin, Martin Lefebvre, Mathilde Bardou, Marc Tisserant, Emilie Luu, Maxime Binquet, Christine Deleuze, Jean-François Verstuyft, Céline Duffourd, Yannis Faivre, Laurence Producer: 20200615 In: European journal of human genetics : EJHG vol. 27 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	19.	Severe X-linked chondrodysplasia punctata in nine new female fetuses. [electronic resource] by Lefebvre, Mathilde Dufernez, Fabienne Bruel, Ange-Line Gonzales, Marie Aral, Bernard Saint-Onge, Judith Gigot, Nadège Desir, Julie Daelemans, Caroline Jossic, Frédérique Schmitt, Sébastien Mangione, Raphaele Pelluard, Fanny Vincent-Delorme, Catherine Labaune, Jean-Marc Bigi, Nicole D'Olne, Dominique Delezoide, Anne-Lise Toutain, Annick Blesson, Sophie Cormier-Daire, Valérie Thevenon, Julien El Chehadeh, Salima Masurel-Paulet, Alice Joyé, Nicole Vibert-Guigue, Claude Rigonnot, Luc Rousseau, Thierry Vabres, Pierre Hervé, Philippe Lamazière, Antonin Rivière, Jean-Baptiste Faivre, Laurence Laurent, Nicole Thauvin-Robinet, Christel Producer: 20160407 In: Prenatal diagnosis vol. 35 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	20.	Diagnostic strategy in segmentation defect of the vertebrae: a retrospective study of 73 patients. [electronic resource] by Lefebvre, Mathilde Dieux-Coeslier, Anne Baujat, Geneviève Schaefer, Elise Judith, Saint-Onge Bazin, Anne Pinson, Lucile Attie-Bitach, Tania Baumann, Clarisse Fradin, Melanie Pierquin, Genevieve Julia, Sophie Quélin, Chloé Doray, Bérénice Berg, Sylvie Vincent-Delorme, Catherine Lambert, Laetitia Bachmann, Nadine Lacombe, Didier Isidor, Bertrand Laurent, Nicole Joelle, Roume Blanchet, Patricia Odent, Sylvie Kervran, Dominique Leporrier, Nathalie Abel, Carine Segers, Karine Guiliano, Fabienne Ginglinger-Fabre, Emmanuelle Selicorni, Angelo Goldenberg, Alice El Chehadeh, Salima Francannet, Christine Demeer, Benedicte Duffourd, Yannis Thauvin-Robinet, Christel Verloes, Alain Cormier-Daire, Valerie Riviere, Jean Baptiste Faivre, Laurence Thevenon, Julien Producer: 20190916 In: Journal of medical genetics vol. 55 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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