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	1.	Rapid detection of common autosomal aneuploidies by quantitative fluorescent PCR on uncultured amniocytes. [electronic resource] by Rahil, Haissam Solassol, Jérome Philippe, Christophe Lefort, Geneviève Jonveaux, Philippe Producer: 20030122 In: European journal of human genetics : EJHG vol. 10 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2.	Analysis of sperm aneuploidy by PRINS. [electronic resource] by Pellestor, Franck Andréo, Brigitte Puechberty, Jacques Lefort, Geneviève Sarda, Pierre Producer: 20060810 In: Methods in molecular biology (Clifton, N.J.) vol. 334 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3.	Chromothripsis: potential origin in gametogenesis and preimplantation cell divisions. A review. [electronic resource] by Pellestor, Franck Gatinois, Vincent Puechberty, Jacques Geneviève, David Lefort, Geneviève Producer: 20150129 In: Fertility and sterility vol. 102 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4.	[Complex chromosomal rearrangements: a paradigm for the study of chromosomal instability]. [electronic resource] by Gatinois, Vincent Puechberty, Jacques Lefort, Geneviève Geneviève, David Pellestor, Franck Producer: 20140331 In: Medecine sciences : M/S vol. 30 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5.	[Chromothripsis, an unexpected novel form of complexity for chromosomal rearrangements]. [electronic resource] by Pellestor, Franck Gatinois, Vincent Puechberty, Jacques Geneviève, David Lefort, Geneviève Producer: 20140609 In: Medecine sciences : M/S vol. 30 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	6.	Partial epilepsy and 47,XXX karyotype: report of four cases. [electronic resource] by Roubertie, Agathe Humbertclaude, Véronique Leydet, Julie Lefort, Geneviève Echenne, Bernard Producer: 20060927 In: Pediatric neurology vol. 35 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	7.	Meiotic segregation of complex reciprocal translocations: direct analysis of the spermatozoa of a t(5;13;14) carrier. [electronic resource] by Pellestor, Franck Puechberty, Jacques Weise, Anja Lefort, Geneviève Anahory, Tal Liehr, Thomas Sarda, Pierre Producer: 20110728 In: Fertility and sterility vol. 95 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	8.	Prader-Willi syndrome: is there a recognizable fetal phenotype? [electronic resource] by Bigi, Nicole Faure, Jean-Michel Coubes, Christine Puechberty, Jacques Lefort, Geneviève Sarda, Pierre Blanchet, Patricia Producer: 20090210 In: Prenatal diagnosis vol. 28 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	9.	Mosaic trisomy 16 in a fetus: the complex relationship between phenotype and genetic mechanisms. [electronic resource] by Moradkhani, Kamran Puechberty, Jacques Blanchet, Patricia Coubes, Christine Lallaoui, Hakima Lewin, Patricia Lefort, Genevieve Sarda, Pierre Producer: 20070221 In: Prenatal diagnosis vol. 26 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	10.	Stable dicentric duplication-deficiency chromosome 14 resulting from crossing-over within a maternal paracentric inversion. [electronic resource] by Lefort, Geneviève Blanchet, Patricia Belgrade, Nabia Rivier, François Chaze, Anne Marie Sarda, Pierre Demaille, Jacques Pellestor, Franck Producer: 20030724 In: American journal of medical genetics. Part A vol. 118A Availability: No items available. Save to lists Add to cart (remove)
	11.	Stable dicentric duplication-deficiency chromosome 14 resulting from crossing-over within a maternal paracentric inversion. [electronic resource] by Lefort, Geneviève Blanchet, Patricia Belgrade, Nabia Rivier, François Chaze, Anne Marie Sarda, Pierre Demaille, Jacques Pellestor, Franck Producer: 20031003 In: American journal of medical genetics vol. 113 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	12.	Early prenatal diagnosis of ICF syndrome by mutation detection. [electronic resource] by Rigolet, Muriel Grégoire, Annie Lefort, Geneviève Blanchet, Patricia Courbes, Christine Rodière, Michel Sarda, Pierre Viegas-Péquignot, Evani Producer: 20080211 In: Prenatal diagnosis vol. 27 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	13.	Breakpoint mapping and complete analysis of meiotic segregation patterns in three men heterozygous for paracentric inversions. [electronic resource] by Bhatt, Samarth Moradkhani, Kamran Mrasek, Kristin Puechberty, Jacques Manvelyan, Marina Hunstig, Friederike Lefort, Genevieve Weise, Anja Lespinasse, James Sarda, Pierre Liehr, Thomas Hamamah, Samir Pellestor, Franck Producer: 20090205 In: European journal of human genetics : EJHG vol. 17 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	14.	Duplication 8q12: confirmation of a novel recognizable phenotype with duane retraction syndrome and developmental delay. [electronic resource] by Amouroux, Cyril Vincent, Marie Blanchet, Patricia Puechberty, Jacques Schneider, Anouck Chaze, Anne Marie Girard, Manon Tournaire, Magali Jorgensen, Christian Morin, Denis Sarda, Pierre Lefort, Geneviève Geneviève, David Producer: 20120910 In: European journal of human genetics : EJHG vol. 20 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	15.	CEP57 mutation in a girl with mosaic variegated aneuploidy syndrome. [electronic resource] by Pinson, Lucile Mannini, Linda Willems, Marjolaine Cucco, Francesco Sirvent, Nicolas Frebourg, Thierry Quarantotti, Valentina Collet, Corinne Schneider, Anouck Sarda, Pierre Geneviève, David Puechberty, Jacques Lefort, Geneviève Musio, Antonio Producer: 20150413 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)
	16.	Somatic mosaicism in trichorhinophalangeal syndrome: a lesson for genetic counseling. [electronic resource] by Corsini, Carole Gencik, Martin Willems, Marjolaine Decker, Eva Sanchez, Elodie Puechberty, Jacques Schneider, Anouck Girard, Manon Edery, Patrick Bretonnes, Patricia Cottalorda, Jérôme Lefort, Geneviève Jeandel, Claire Sarda, Pierre Genevieve, David Producer: 20150212 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)
	17.	Epiphyseal punctate calcifications (stippling) in complete trisomy 9. [electronic resource] by Perez, Marie-José Schneider, Anouck Chaze, Anne-Marie Bigi, Nicole Lefort, Geneviève Rouleau, Caroline Faure, Jean-Michel Rahil, Haissam Wadih, Nami Couture, Alain Boulot, Pierre Blanchet, Patricia Sarda, Pierre Geneviève, David Producer: 20100205 In: Prenatal diagnosis vol. 29 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	18.	Dysspondyloenchondromatosis without COL2A1 mutation: possible genetic heterogeneity. [electronic resource] by Tran Mau-Them, Frédéric Boualam, Aurélia Barat-Houari, Mouna Jeandel, Claire Cottalorda, Jérôme Cormier-Daire, Valérie Fabre, Aurélie Dumont, Bruno Lefort, Geneviève Baujat, Geneviève Le Merrer, Martine Jorgensen, Christian Touitou, Isabelle Geneviève, David 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)
	19.	Expanding the phenotype of IQSEC2 mutations: truncating mutations in severe intellectual disability. [electronic resource] by Tran Mau-Them, Frederic Willems, Marjolaine Albrecht, Beate Sanchez, Elodie Puechberty, Jacques Endele, Sabine Schneider, Anouck Ruiz Pallares, Nathalie Missirian, Chantal Rivier, Francois Girard, Manon Holder, Muriel Manouvrier, Sylvie Touitou, Isabelle Lefort, Genevieve Sarda, Pierre Moncla, Anne Drunat, Severine Wieczorek, Dagmar Genevieve, David Producer: 20150120 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)
	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)

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