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	1.	Severe psychomotor delay in a severe presentation of cat-eye syndrome. [electronic resource] by Jedraszak, Guillaume Receveur, Aline Andrieux, Joris Mathieu-Dramard, Michèle Copin, Henri Morin, Gilles Producer: 20150204 In: Case reports in genetics vol. 2015 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2.	A severe prenatal presentation of Cat Eye Syndrome. [electronic resource] by Jedraszak, Guillaume Receveur, Aline Andrieux, Joris Naepels, Philippe Mathieu-Dramard, Michèle Bremond-Gignac, Dominique Sevestre, Henri Copin, Henri Rochette, Jacques Producer: 20140818 In: Clinical dysmorphology vol. 22 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3.	New intragenic rearrangements in non-Finnish mulibrey nanism. [electronic resource] by Jobic, Florence Morin, Gilles Vincent-Delorme, Catherine Cadet, Estelle Cabry, Rosalie Mathieu-Dramard, Michèle Copin, Henri Rochette, Jacques Jedraszak, Guillaume Producer: 20180207 In: American journal of medical genetics. Part A vol. 173 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4.	Split-hand/foot malformation with long-bone deficiency and BHLHA9 duplication: two cases and expansion of the phenotype to radial agenesis. [electronic resource] by Petit, Florence Andrieux, Joris Demeer, Bénédicte Collet, Louis-Michel Copin, Henri Boudry-Labis, Elise Escande, Fabienne Manouvrier-Hanu, Sylvie Mathieu-Dramard, Michèle Producer: 20130715 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)
	5.	Prenatal diagnosis of femoral facial syndrome: Three case reports and literature review. [electronic resource] by Luisin, Marion Chevreau, Julien Klein, Céline Naepels, Philippe Demeer, Bénédicte Mathieu-Dramard, Michèle Jedraszak, Guillaume Gondry-Jouet, Catherine Gondry, Jean Dieux-Coeslier, Anne Morin, Gilles Producer: 20180605 In: American journal of medical genetics. Part A vol. 173 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	6.	A patient with Simpson-Golabi-Behmel syndrome, biliary cirrhosis and successful liver transplantation. [electronic resource] by Jedraszak, Guillaume Girard, Muriel Mellos, Antonio Djeddi, Djamal-Dine Chardot, Christophe Vanrenterghem, Audrey Moizard, Marie-Pierre Gondry, Jean Sevestre, Henri Mathieu-Dramard, Michele Lacaille, Florence Demeer, Benedicte Producer: 20141103 In: American journal of medical genetics. Part A vol. 164A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	7.	Syndromic mental retardation with thrombocytopenia due to 21q22.11q22.12 deletion: Report of three patients. [electronic resource] by Katzaki, Eleni Morin, Gilles Pollazzon, Marzia Papa, Filomena Tiziana Buoni, Sabrina Hayek, Joussef Andrieux, Joris Lecerf, Laure Popovici, Cornel Receveur, Aline Mathieu-Dramard, Michèle Renieri, Alessandra Mari, Francesca Philip, Nicole Producer: 20100929 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)
	8.	Overlapping phenotypes between SHORT and Noonan syndromes in patients with PTPN11 pathogenic variants. [electronic resource] by Ranza, Emmanuelle Guimier, Anne Verloes, Alain Capri, Yline Marques, Charles Auclair, Martine Mathieu-Dramard, Michèle Morin, Gilles Thevenon, Julien Faivre, Laurence Thauvin-Robinet, Christel Innes, A Micheil Dyment, David A Vigouroux, Corinne Amiel, Jeanne Producer: 20210706 In: Clinical genetics vol. 98 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	9.	Duplication 16p13.3 and the CREBBP gene: confirmation of the phenotype. [electronic resource] by Demeer, Bénédicte Andrieux, Joris Receveur, Aline Morin, Gilles Petit, Florence Julia, Sophie Plessis, Ghislaine Martin-Coignard, Dominique Delobel, Bruno Firth, Helen V Thuresson, Ann C Lanco Dosen, Sandrine Sjörs, Kerstin Le Caignec, Cedric Devriendt, Koenraad Mathieu-Dramard, Michèle Producer: 20130611 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)
	10.	Clinical and molecular characterization of the 20q11.2 microdeletion syndrome: six new patients. [electronic resource] by Jedraszak, Guillaume Demeer, Bénédicte Mathieu-Dramard, Michèle Andrieux, Joris Receveur, Aline Weber, Astrid Maye, Una Foulds, Nicola Temple, I K Crolla, John Alex-Cordier, Marie-Pierre Sanlaville, Damien Ewans, Lisa Wilson, Meredith Armstrong, Ruth Clarkson, Amanda Copin, Henri Morin, Gilles Producer: 20160429 In: American journal of medical genetics. Part A vol. 167A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	11.	TCF4 deletions in Pitt-Hopkins Syndrome. [electronic resource] by Giurgea, Irina Missirian, Chantal Cacciagli, Pierre Whalen, Sandra Fredriksen, Tessa Gaillon, Thierry Rankin, Julia Mathieu-Dramard, Michele Morin, Gilles Martin-Coignard, Dominique Dubourg, Christèle Chabrol, Brigitte Arfi, Jacqueline Giuliano, Fabienne Claude Lambert, Jean Philip, Nicole Sarda, Pierre Villard, Laurent Goossens, Michel Moncla, Anne Producer: 20081211 In: Human mutation vol. 29 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	12.	A novel microdeletion syndrome at 9q21.13 characterised by mental retardation, speech delay, epilepsy and characteristic facial features. [electronic resource] by Boudry-Labis, Elise Demeer, Bénédicte Le Caignec, Cédric Isidor, Bertrand Mathieu-Dramard, Michèle Plessis, Ghislaine George, Alice M Taylor, Juliet Aftimos, Salim Wiemer-Kruel, Adelheid Kohlhase, Jürgen Annerén, Göran Firth, Helen Simonic, Ingrid Vermeesch, Joris Thuresson, Ann-Charlotte Copin, Henri Love, Donald R Andrieux, Joris Producer: 20130812 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)
	13.	FLNC pathogenic variants in patients with cardiomyopathies: Prevalence and genotype-phenotype correlations. [electronic resource] by Ader, Flavie De Groote, Pascal Réant, Patricia Rooryck-Thambo, Caroline Dupin-Deguine, Delphine Rambaud, Caroline Khraiche, Diala Perret, Claire Pruny, Jean François Mathieu-Dramard, Michèle Gérard, Marion Troadec, Yann Gouya, Laurent Jeunemaitre, Xavier Van Maldergem, Lionel Hagège, Albert Villard, Eric Charron, Philippe Richard, Pascale Producer: 20200903 In: Clinical genetics vol. 96 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	14.	Natural history of Barth syndrome: a national cohort study of 22 patients. [electronic resource] by Rigaud, Charlotte Lebre, Anne-Sophie Touraine, Renaud Beaupain, Blandine Ottolenghi, Chris Chabli, Allel Ansquer, Helene Ozsahin, Hulya Di Filippo, Sylvie De Lonlay, Pascale Borm, Betina Rivier, Francois Vaillant, Marie-Catherine Mathieu-Dramard, Michèle Goldenberg, Alice Viot, Géraldine Charron, Philippe Rio, Marlene Bonnet, Damien Donadieu, Jean Producer: 20140102 In: Orphanet journal of rare diseases vol. 8 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	15.	Spinal muscular atrophy with respiratory distress type 1: A multicenter retrospective study. [electronic resource] by Viguier, Agnès Lauwers-Cances, Valérie Cintas, Pascal Manel, Véronique Peudenier, Sylviane Desguerre, Isabelle Quijano-Roy, Susana Vanhulle, Catherine Fradin, Mélanie Isapof, Arnaud Jokic, Michaël Mathieu-Dramard, Michèle Dieterich, Klaus Petit, Florence Magdelaine, Corinne Giuliano, Fabienne Gras, Domitille Haye, Damien Nizon, Mathilde Magen, Maryse Bieth, Eric Cances, Claude Producer: 20200429 In: Neuromuscular disorders : NMD vol. 29 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	16.	Overlapping microdeletions involving 15q22.2 narrow the critical region for intellectual disability to NARG2 and RORA. [electronic resource] by Yamamoto, Toshiyuki Mencarelli, Maria Antonietta Di Marco, Chiara Mucciolo, Mafalda Vascotto, Marina Balestri, Paolo Gérard, Marion Mathieu-Dramard, Michèle Andrieux, Joris Breuning, Martijn Hoffer, Mariëtte J V Ruivenkamp, Claudia A L Shimada, Shino Sangu, Noriko Shimojima, Keiko Umezu, Ryoji Kawame, Hiroshi Matsuo, Mari Saito, Kayoko Renieri, Alessandra Mari, Francesca Producer: 20141215 In: European journal of medical genetics vol. 57 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	17.	Gain-of-Function Mutation in STIM1 (P.R304W) Is Associated with Stormorken Syndrome. [electronic resource] by Morin, Gilles Bruechle, Nadina Ortiz Singh, Amrathlal Rabbind Knopp, Cordula Jedraszak, Guillaume Elbracht, Miriam Brémond-Gignac, Dominique Hartmann, Kathi Sevestre, Henri Deutz, Peter Hérent, Didier Nürnberg, Peter Roméo, Bernard Konrad, Kerstin Mathieu-Dramard, Michèle Oldenburg, Johannes Bourges-Petit, Elisabeth Shen, Yuequan Zerres, Klaus Ouadid-Ahidouch, Halima Rochette, Jacques Producer: 20150609 In: Human mutation vol. 35 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	18.	29 French adult patients with PMM2-congenital disorder of glycosylation: outcome of the classical pediatric phenotype and depiction of a late-onset phenotype. [electronic resource] by Monin, Marie-Lorraine Mignot, Cyril De Lonlay, Pascale Héron, Bénédicte Masurel, Alice Mathieu-Dramard, Michèle Lenaerts, Catherine Thauvin, Christel Gérard, Marion Roze, Emmanuel Jacquette, Aurélia Charles, Perrine de Baracé, Claire Drouin-Garraud, Valérie Khau Van Kien, Philippe Cormier-Daire, Valérie Mayer, Michèle Ogier, Hélène Brice, Alexis Seta, Nathalie Héron, Delphine Producer: 20150720 In: Orphanet journal of rare diseases vol. 9 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	19.	Microdeletions in 9q33.3-q34.11 in five patients with intellectual disability, microcephaly, and seizures of incomplete penetrance: is STXBP1 not the only causative gene? [electronic resource] by Ehret, Julia K Engels, Hartmut Cremer, Kirsten Becker, Jessica Zimmermann, Johannes P Wohlleber, Eva Grasshoff, Ute Rossier, Eva Bonin, Michael Mangold, Elisabeth Bevot, Andrea Schön, Stefanie Heilmann-Heimbach, Stefanie Dennert, Nicola Mathieu-Dramard, Michèle Lacaze, Elodie Plessis, Ghislaine de Broca, Alain Jedraszak, Guillaume Röthlisberger, Benno Miny, Peter Filges, Isabel Dufke, Andreas Andrieux, Joris Lee, Jennifer A Zink, Alexander M Producer: 20150930 In: Molecular cytogenetics vol. 8 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	20.	PIK3R1 mutations cause syndromic insulin resistance with lipoatrophy. [electronic resource] by Thauvin-Robinet, Christel Auclair, Martine Duplomb, Laurence Caron-Debarle, Martine Avila, Magali St-Onge, Judith Le Merrer, Martine Le Luyer, Bernard Héron, Delphine Mathieu-Dramard, Michèle Bitoun, Pierre Petit, Jean-Michel Odent, Sylvie Amiel, Jeanne Picot, Damien Carmignac, Virginie Thevenon, Julien Callier, Patrick Laville, Martine Reznik, Yves Fagour, Cédric Nunes, Marie-Laure Capeau, Jacqueline Lascols, Olivier Huet, Frédéric Faivre, Laurence Vigouroux, Corinne Rivière, Jean-Baptiste Producer: 20130916 In: American journal of human genetics vol. 93 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 38 results.