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	1.	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)
	2.	Five years of molecular diagnosis of Fragile X syndrome (1997-2001): a collaborative study reporting 95% of the activity in France. [electronic resource] by Biancalana, Valérie Beldjord, Chérif Taillandier, Agnès Szpiro-Tapia, Sylvie Cusin, Véronica Gerson, Fabienne Philippe, Christophe Mandel, Jean-Louis Producer: 20050318 In: American journal of medical genetics. Part A vol. 129A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3.	Spondylocostal dysostosis, anal and genitourinary malformations in a fetal case: a new case of Casamassima-Morton-Nance syndrome? [electronic resource] by Thauvin-Robinet, Christel Laurent, Nicole Rousseau, Thierry Couvreur, Stéphanie Cusin, Véronica Callier, Patrick Mugneret, Francine Durand, Christine Huet, Frédéric Sagot, Paul Faivre, Laurence Producer: 20070322 In: European journal of medical genetics vol. 50 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4.	A new cohort of MECP2 mutation screening in unexplained mental retardation: careful re-evaluation is the best indicator for molecular diagnosis. [electronic resource] by Donzel-Javouhey, Anne Thauvin-Robinet, Christel Cusin, Veronica Madinier, Nathalie Manceau, Eric Dipanda, Dominique Dulieu, Véronique Mugneret, Francine Huet, Frédéric Teyssier, Jean-Raymond Faivre, Laurence Producer: 20060928 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)
	5.	Cloacal exstrophy in an infant with 9q34.1-qter deletion resulting from a de novo unbalanced translocation between chromosome 9q and Yq. [electronic resource] by Thauvin-Robinet, Christel Faivre, Laurence Cusin, Véronica Khau Van Kien, Philippe Callier, Patrick Parker, Keith L Fellous, Marc Borgnon, Joséphine Gounot, Emmanuel Huet, Frédéric Sapin, Emmanuel Mugneret, Francine Producer: 20040423 In: American journal of medical genetics. Part A vol. 126A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	6.	A major determinant for binding and aminoacylation of tRNA(Ala) in cytoplasmic Alanyl-tRNA synthetase is mutated in dominant axonal Charcot-Marie-Tooth disease. [electronic resource] by Latour, Philippe Thauvin-Robinet, Christel Baudelet-Méry, Chantal Soichot, Pierre Cusin, Veronica Faivre, Laurence Locatelli, Marie-Claire Mayençon, Martine Sarcey, Annie Broussolle, Emmanuel Camu, William David, Albert Rousson, Robert Producer: 20100225 In: American journal of human genetics vol. 86 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	7.	Prenatal overgrowth and mosaic trisomy 15q25-qter including the IGF1 receptor gene. [electronic resource] by Faivre, Laurence Rousseau, Thierry Laurent, Nicole Gosset, Philippe Sanlaville, Damien Thauvin-Robinet, Christel Cusin, Véronica Lionnais, Stéphanie Callier, Patrick Khau Van Kien, Philippe Huet, Frédéric Turleau, Catherine Sagot, Paul Mugneret, Francine Producer: 20040826 In: Prenatal diagnosis vol. 24 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	8.	Clinical implications of CTNNA1 germline mutations in asymptomatic carriers. [electronic resource] by Benusiglio, Patrick R Colas, Chrystelle Guillerm, Erell Canard, Axelle Delhomelle, Hélène Warcoin, Mathilde Bellanger, Jérôme Eyries, Mélanie Zizi, Mohamed Netter, Jeanne Soubrier, Florent Parc, Yann Mourregot, Anne Maran Gonzalez, Aurélie Cusin, Veronica Denis, Jérôme A Coupier, Isabelle Svrcek, Magali Coulet, Florence Producer: 20191230 In: Gastric cancer : official journal of the International Gastric Cancer Association and the Japanese Gastric Cancer Association vol. 22 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	9.	Refined genetic mapping of autosomal recessive chronic distal spinal muscular atrophy to chromosome 11q13.3 and evidence of linkage disequilibrium in European families. [electronic resource] by Viollet, Louis Zarhrate, Mohammed Maystadt, Isabelle Estournet-Mathiaut, Brigitte Barois, Annie Desguerre, Isabelle Mayer, Michèle Chabrol, Brigitte LeHeup, Bruno Cusin, Veronica Billette De Villemeur, Thierry Bonneau, Dominique Saugier-Veber, Pascale Touzery-De Villepin, Anne Delaubier, Anne Kaplan, Jocelyne Jeanpierre, Marc Feingold, Joshué Munnich, Arnold Producer: 20041207 In: European journal of human genetics : EJHG vol. 12 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	10.	[The French Genetic and Cancer Consortium guidelines for multigene panel analysis in hereditary breast and ovarian cancer predisposition]. [electronic resource] by Moretta, Jessica Berthet, Pascaline Bonadona, Valérie Caron, Olivier Cohen-Haguenauer, Odile Colas, Chrystelle Corsini, Carole Cusin, Véronica De Pauw, Antoine Delnatte, Capucine Dussart, Sophie Jamain, Christophe Longy, Michel Luporsi, Elisabeth Maugard, Christine Nguyen, Tan Dat Pujol, Pascal Vaur, Dominique Andrieu, Nadine Lasset, Christine Noguès, Catherine Producer: 20181029 In: Bulletin du cancer vol. 105 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	11.	Early-onset osteoarthritis, Charcot-Marie-Tooth like neuropathy, autoimmune features, multiple arterial aneurysms and dissections: an unrecognized and life threatening condition. [electronic resource] by Aubart, Mélodie Gobert, Delphine Aubart-Cohen, Fleur Detaint, Delphine Hanna, Nadine d'Indya, Hyacintha Lequintrec, Janine-Sophie Renard, Philippe Vigneron, Anne-Marie Dieudé, Philippe Laissy, Jean-Pierre Koch, Pierre Muti, Christine Roume, Joelle Cusin, Veronica Grandchamp, Bernard Gouya, Laurent LeGuern, Eric Papo, Thomas Boileau, Catherine Jondeau, Guillaume Producer: 20151007 In: PloS one vol. 9 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	12.	The power of high-resolution non-targeted array-CGH in identifying intragenic rearrangements responsible for Cohen syndrome. [electronic resource] by El Chehadeh-Djebbar, Salima Faivre, Laurence Moncla, Anne Aral, Bernard Missirian, Chantal Popovici, Cornel Rump, Patrick Van Essen, Anthonie Frances, Anne-Marie Gigot, Nadège Cusin, Veronica Masurel-Paulet, Alice Gueneau, Lucie Payet, Muriel Ragon, Clémence Marle, Nathalie Mosca-Boidron, Anne-Laure Huet, Frédéric Balikova, Irina Teyssier, Jean-Raymond Mugneret, Francine Thauvin-Robinet, Christel Callier, Patrick Producer: 20120210 In: Journal of medical genetics vol. 48 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	13.	Novel FH mutations in families with hereditary leiomyomatosis and renal cell cancer (HLRCC) and patients with isolated type 2 papillary renal cell carcinoma. [electronic resource] by Gardie, Betty Remenieras, Audrey Kattygnarath, Darouna Bombled, Johny Lefèvre, Sandrine Perrier-Trudova, Victoria Rustin, Pierre Barrois, Michel Slama, Abdelhamid Avril, Marie-Françoise Bessis, Didier Caron, Olivier Caux, Frédéric Collignon, Patrick Coupier, Isabelle Cremin, Carol Dollfus, Hélène Dugast, Catherine Escudier, Bernard Faivre, Laurence Field, Michel Gilbert-Dussardier, Brigitte Janin, Nicolas Leport, Yves Leroux, Dominique Lipsker, Dan Malthieu, Félicia McGilliwray, Barbara Maugard, Christine Méjean, Arnaud Mortemousque, Isabelle Plessis, Ghislaine Poppe, Bruce Pruvost-Balland, Christelle Rooker, Serena Roume, Joelle Soufir, Nadem Steinraths, Michelle Tan, Min-Han Théodore, Christine Thomas, Luc Vabres, Pierre Van Glabeke, Emmanuel Meric, Jean-Baptiste Verkarre, Virginie Lenoir, Gilbert Joulin, Virginie Deveaux, Sophie Cusin, Veronica Feunteun, Jean Teh, Bin Tean Bressac-de Paillerets, Brigitte Richard, Stéphane Producer: 20110729 In: Journal of medical genetics vol. 48 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)