Your search returned 39 results.

Results
	1.	Costello syndrome and neurological abnormalities. [electronic resource] by Delrue, Marie-Ange Chateil, Jean-François Arveiler, Benoit Lacombe, Didier Producer: 20040728 In: American journal of medical genetics. Part A vol. 123A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2.	A case of familial transmission of the newly described DNMT3A-Overgrowth Syndrome. [electronic resource] by Lemire, Gabrielle Gauthier, Julie Soucy, Jean-François Delrue, Marie-Ange Publication details: American journal of medical genetics. Part A Jul 2017 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)
	3.	A new case of VACTERL association with unilateral amelia of upper limb. [electronic resource] by Pelluard-Nehmé, Fanny Baudet, Christel Carles, Dominique Alberti, Eve Marie Delrue, Marie Ange Lacombe, Didier Producer: 20070822 In: Clinical dysmorphology vol. 16 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4.	The diagnosis of Costello syndrome: nomenclature in Ras/MAPK pathway disorders. [electronic resource] by Kerr, Bronwyn Allanson, Judith Delrue, Marie Ange Gripp, Karen W Lacombe, Didier Lin, Angela E Rauen, Katherine A Producer: 20080522 In: American journal of medical genetics. Part A vol. 146A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5.	Expanding the clinical phenotype at the 3q13.31 locus with a new case of microdeletion and first characterization of the reciprocal duplication. [electronic resource] by Vuillaume, Marie-Laure Delrue, Marie-Ange Naudion, Sophie Toutain, Jérôme Fergelot, Patricia Arveiler, Benoit Lacombe, Didier Rooryck, Caroline Producer: 20140317 In: Molecular genetics and metabolism vol. 110 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	6.	Cutaneous manifestations in Costello and cardiofaciocutaneous syndrome: report of 18 cases and literature review. [electronic resource] by Morice-Picard, Fanny Ezzedine, Khaled Delrue, Marie-Ange Arveiler, Benoit Fergelot, Patricia Taïeb, Alain Lacombe, Didier Boralevi, Franck Producer: 20140818 In: Pediatric dermatology vol. 30 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	7.	Testing and improving experimental parameters for the use of low molecular weight targets in array-CGH experiments. [electronic resource] by Stef, Marianne Simon, Delphine Burgelin, Ingrid Guisle, Isabelle Chevalier, Catherine Delrue, Marie-Ange Lacombe, Didier Léger, Jean Arveiler, Benoît Producer: 20061207 In: Human mutation vol. 27 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	8.	Array-CGH analysis of a cohort of 86 patients with oculoauriculovertebral spectrum. [electronic resource] by Rooryck, Caroline Souakri, Noui Cailley, Dorothée Bouron, Julie Goizet, Cyril Delrue, Marie-Ange Marlin, Sandrine Lacombe, Feclad Didier Arveiler, Benoît Producer: 20101115 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)
	9.	Behavioral and temperamental features of children with Costello syndrome. [electronic resource] by Galéra, Cédric Delrue, Marie-Ange Goizet, Cyril Etchegoyhen, Kattalin Taupiac, Emmanuelle Sigaudy, Sabine Arveiler, Benoît Philip, Nicole Bouvard, Manuel Lacombe, Didier Producer: 20060613 In: American journal of medical genetics. Part A vol. 140 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	10.	Brachydactyly type A1 with short humerus and associated skeletal features. [electronic resource] by Lacombe, Didier Delrue, Marie-Ange Rooryck, Caroline Morice-Picard, Fanny Arveiler, Benoît Maugey-Laulom, Brigitte Mundlos, Stefan Toutain, Annick Chateil, Jean-François Producer: 20110315 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)
	11.	Socio-behavioral characteristics of children with Rubinstein-Taybi syndrome. [electronic resource] by Galéra, Cédric Taupiac, Emmanuelle Fraisse, Sonia Naudion, Sophie Toussaint, Eva Rooryck-Thambo, Caroline Delrue, Marie-Ange Arveiler, Benoit Lacombe, Didier Bouvard, Manuel-Pierre Producer: 20091102 In: Journal of autism and developmental disorders vol. 39 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	12.	Spectrum of CREBBP gene dosage anomalies in Rubinstein-Taybi syndrome patients. [electronic resource] by Stef, Marianne Simon, Delphine Mardirossian, Béatrice Delrue, Marie-Ange Burgelin, Ingrid Hubert, Christophe Marche, Michèle Bonnet, Françoise Gorry, Philippe Longy, Michel Lacombe, Didier Coupry, Isabelle Arveiler, Benoît Producer: 20070926 In: European journal of human genetics : EJHG vol. 15 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	13.	Rationale and design of a randomized clinical trial (Marfan Sartan) of angiotensin II receptor blocker therapy versus placebo in individuals with Marfan syndrome. [electronic resource] by Detaint, Delphine Aegerter, Philippe Tubach, Florence Hoffman, Isabelle Plauchu, Henri Dulac, Yves Faivre, Laurence Olivier Delrue, Marie-Ange Collignon, Patrick Odent, Sylvie Tchitchinadze, Maria Bouffard, Catherine Arnoult, Florence Gautier, Mathieu Boileau, Catherine Jondeau, Guillaume Producer: 20101015 In: Archives of cardiovascular diseases vol. 103 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	14.	Clinical and mutational spectrum in a cohort of 105 unrelated patients with dilated cardiomyopathy. [electronic resource] by Millat, Gilles Bouvagnet, Patrice Chevalier, Philippe Sebbag, Laurent Dulac, Arnaud Dauphin, Claire Jouk, Pierre-Simon Delrue, Marie-Ange Thambo, Jean-Benoit Le Metayer, Philippe Seronde, Marie-France Faivre, Laurence Eicher, Jean-Christophe Rousson, Robert Producer: 20120111 In: European journal of medical genetics vol. 54 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	15.	Towards a new point of view on the phenotype of patients with a 17q12 microdeletion syndrome. [electronic resource] by Laffargue, Fanny Bourthoumieu, Sylvie Llanas, Brigitte Baudouin, Véronique Lahoche, Annie Morin, Denis Bessenay, Lucie De Parscau, Loïc Cloarec, Sylvie Delrue, Marie-Ange Taupiac, Emmanuelle Dizier, Emilie Laroche, Cécile Bahans, Claire Yardin, Catherine Lacombe, Didier Guigonis, Vincent Producer: 20150528 In: Archives of disease in childhood vol. 100 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	16.	Phenotype and natural history in Marshall-Smith syndrome. [electronic resource] by Shaw, Adam C van Balkom, Inge D C Bauer, Mislen Cole, Trevor R P Delrue, Marie-Ange Van Haeringen, Arie Holmberg, Eva Knight, Samantha J L Mortier, Geert Nampoothiri, Sheela Pušeljić, Silvija Zenker, Martin Cormier-Daire, Valerie Hennekam, Raoul C M Producer: 20110204 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.	Natural disease history and characterisation of SUMF1 molecular defects in ten unrelated patients with multiple sulfatase deficiency. [electronic resource] by Sabourdy, Frédérique Mourey, Lionel Le Trionnaire, Emmanuelle Bednarek, Nathalie Caillaud, Catherine Chaix, Yves Delrue, Marie-Ange Dusser, Anne Froissart, Roseline Garnotel, Roselyne Guffon, Nathalie Megarbane, André Ogier de Baulny, Hélène Pédespan, Jean-Michel Pichard, Samia Valayannopoulos, Vassili Verloes, Alain Levade, Thierry Producer: 20160121 In: Orphanet journal of rare diseases vol. 10 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	18.	A homozygous balanced reciprocal translocation suggests LINC00237 as a candidate gene for MOMO (macrosomia, obesity, macrocephaly, and ocular abnormalities) syndrome. [electronic resource] by Vu, Phi Yen Toutain, Jérôme Cappellen, David Delrue, Marie-Ange Daoud, Hussein El Moneim, Azza Abd Barat, Pascal Montaubin, Orianne Bonnet, Françoise Dai, Zong Qi Philippe, Christophe Tran, Cong Toai Rooryck, Caroline Arveiler, Benoît Saura, Robert Briault, Sylvain Lacombe, Didier Taine, Laurence Producer: 20130621 In: American journal of medical genetics. Part A vol. 158A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	19.	Deletions in the 3' part of the NFIX gene including a recurrent Alu-mediated deletion of exon 6 and 7 account for previously unexplained cases of Marshall-Smith syndrome. [electronic resource] by Schanze, Denny Neubauer, Dorothée Cormier-Daire, Valerie Delrue, Marie-Ange Dieux-Coeslier, Anne Hasegawa, Tomonobu Holmberg, Eva E Koenig, Rainer Krueger, Gabriele Schanze, Ina Seemanova, Eva Shaw, Adam C Vogt, Julie Volleth, Marianne Reis, André Meinecke, Peter Hennekam, Raoul C M Zenker, Martin Producer: 20150511 In: Human mutation vol. 35 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	20.	Early-onset obesity and paternal 2pter deletion encompassing the ACP1, TMEM18, and MYT1L genes. [electronic resource] by Doco-Fenzy, Martine Leroy, Camille Schneider, Anouck Petit, Florence Delrue, Marie-Ange Andrieux, Joris Perrin-Sabourin, Laurence Landais, Emilie Aboura, Azzedine Puechberty, Jacques Girard, Manon Tournaire, Magali Sanchez, Elodie Rooryck, Caroline Ameil, Agnès Goossens, Michel Jonveaux, Philippe Lefort, Geneviève Taine, Laurence Cailley, Dorothée Gaillard, Dominique Leheup, Bruno Sarda, Pierre Geneviève, David Producer: 20141118 In: European journal of human genetics : EJHG vol. 22 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

Refine your search

Availability

Authors

Topics

Languages

Your search returned 39 results.