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	81.	Cerebral dysgenesis does not exclude OFD I syndrome. [electronic resource] by Thauvin-Robinet, Christel Lesca, Gaëtan Aral, Bernard Gigot, Nadège Lambert, Sandy Gueneau, Lucie Macca, Marina Franco, Brunella Huet, Frédéric Zabot, Marie-Thérèse Attié-Bitach, Tania Attia-Sobol, Jocelyne Faivre, Laurence Producer: 20110520 In: American journal of medical genetics. Part A vol. 155A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	82.	Hereditary juvenile cobalamin deficiency caused by mutations in the intrinsic factor gene. [electronic resource] by Tanner, Stephan M Li, Zhongyuan Perko, James D Oner, Cihan Cetin, Mualla Altay, Cigdem Yurtsever, Zekiye David, Karen L Faivre, Laurence Ismail, Essam A Gräsbeck, Ralph de la Chapelle, Albert Producer: 20050509 In: Proceedings of the National Academy of Sciences of the United States of America vol. 102 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	83.	De Novo 21q22.1q22.2 deletion including RUNX1 mimicking a congenital infection. [electronic resource] by Thevenon, Julien Callier, Patrick Thauvin-Robinet, Christel Mejean, Nathalie Falcon-Eicher, Sylvie Maynadie, Marc de Maistre, Emmanuel Bidot, Samuel Huet, Frédéric Beri-Dexheimer, Mylène Jonveaux, Philippe Mugneret, Francine Faivre, Laurence Producer: 20110517 In: American journal of medical genetics. Part A vol. 155A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	84.	Multiple cysts of the corpus callosum and psychomotor delay in a patient with a 3.1 Mb 15q24.1q24.2 interstitial deletion identified by array-CGH. [electronic resource] by Masurel-Paulet, Alice Callier, Patrick Thauvin-Robinet, Christel Chouchane, Mondher Mejean, Nathalie Marle, Nathalie Mosca, Anne-Laure Ben Salem, Douraied Giroud, Maurice Guibaud, Laurent Huet, Frédéric Mugneret, Francine Faivre, Laurence Producer: 20090923 In: American journal of medical genetics. Part A vol. 149A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	85.	Mutations in the nervous system--specific HSN2 exon of WNK1 cause hereditary sensory neuropathy type II. [electronic resource] by Shekarabi, Masoud Girard, Nathalie Rivière, Jean-Baptiste Dion, Patrick Houle, Martin Toulouse, André Lafrenière, Ronald G Vercauteren, Freya Hince, Pascale Laganiere, Janet Rochefort, Daniel Faivre, Laurence Samuels, Mark Rouleau, Guy A Producer: 20080925 In: The Journal of clinical investigation vol. 118 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	86.	The identification of MAFB mutations in eight patients with multicentric carpo-tarsal osteolysis supports genetic homogeneity but clinical variability. [electronic resource] by Mehawej, Cybel Courcet, Jean-Benoît Baujat, Geneviève Mouy, Richard Gérard, Marion Landru, Isabelle Gosselin, Morgane Koehrer, Philippe Mousson, Christiane Breton, Sylvain Quartier, Pierre Le Merrer, Martine Faivre, Laurence Cormier-Daire, Valérie Producer: 20140702 In: American journal of medical genetics. Part A vol. 161A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	87.	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)
	88.	Therapy with boceprevir or telaprevir in HIV/hepatitis C virus co-infected patients to treat recurrence of hepatitis C virus infection after liver transplantation. [electronic resource] by Antonini, Teresa Maria Furlan, Valerie Teicher, Elina Haim-Boukobza, Stephanie Sebagh, Mylene Coilly, Audrey Bonhomme-Faivre, Laurence Roque-Afonso, Anne-Marie Vittecoq, Daniel Samuel, Didier Taburet, Anne-Marie Duclos-Vallée, Jean-Charles Producer: 20150903 In: AIDS (London, England) vol. 29 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	89.	Somatic MMR gene mutations as a cause for MSI-H sebaceous neoplasms in Muir-Torre syndrome-like patients. [electronic resource] by Joly, Marie-Odile Attignon, Valéry Saurin, Jean-Christophe Desseigne, Françoise Leroux, Dominique Martin-Denavit, Tanguy Giraud, Sophie Bonnet-Dupeyron, Marie-Noëlle Faivre, Laurence Auclair, Jessie Grand-Masson, Chloé Audoynaud, Carole Wang, Qing Producer: 20151125 In: Human mutation vol. 36 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	90.	Overgrowth and trisomy 15q26.1-qter including the IGF1 receptor gene: report of two families and review of the literature. [electronic resource] by Faivre, Laurence Gosset, Philippe Cormier-Daire, Valérie Odent, Sylvie Amiel, Jeanne Giurgea, Irina Nassogne, Marie-Cécile Pasquier, Laurent Munnich, Arnold Romana, Serge Prieur, Marguerite Vekemans, Michel De Blois, Marie-Christine Turleau, Catherine Producer: 20030610 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)
	91.	Distribution of ENG and ACVRL1 (ALK1) mutations in French HHT patients. [electronic resource] by Lesca, Gaëtan Burnichon, Nelly Raux, Grégory Tosi, Mario Pinson, Stéphane Marion, Marie-Jeanne Babin, Emmanuel Gilbert-Dussardier, Brigitte Rivière, Sophie Goizet, Cyril Faivre, Laurence Plauchu, Henri Frébourg, Thierry Calender, Alain Giraud, Sophie Producer: 20060626 In: Human mutation vol. 27 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	92.	Recurrence of SOX2 anophthalmia syndrome with gonosomal mosaicism in a phenotypically normal mother. [electronic resource] by Faivre, Laurence Williamson, Kathleen A Faber, Valérie Laurent, Nicole Grimaldi, Marianne Thauvin-Robinet, Christel Durand, Christine Mugneret, Francine Gouyon, Jean-Bernard Bron, Alain Huet, Frédéric Hayward, Caroline Heyningen, Veronica van Fitzpatrick, David R Producer: 20060530 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)
	93.	Altered chemotactic response to CXCL12 in patients carrying GATA2 mutations. [electronic resource] by Maciejewski-Duval, Anna Meuris, Floriane Bignon, Alexandre Aknin, Marie-Laure Balabanian, Karl Faivre, Laurence Pasquet, Marlène Barlogis, Vincent Fieschi, Claire Bellanné-Chantelot, Christine Donadieu, Jean Schlecht-Louf, Géraldine Marin-Esteban, Viviana Bachelerie, Françoise Producer: 20170911 In: Journal of leukocyte biology vol. 99 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	94.	Congenital neutropenia with retinopathy, a new phenotype without intellectual deficiency or obesity secondary to VPS13B mutations. [electronic resource] by Gueneau, Lucie Duplomb, Laurence Sarda, Pierre Hamel, Christian Aral, Bernard Chehadeh, Salima El Gigot, Nadège St-Onge, Judith Callier, Patrick Thevenon, Julien Huet, Frédéric Carmignac, Virginie Droin, Nathalie Faivre, Laurence Thauvin-Robinet, Christel Producer: 20140911 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)
	95.	Paternal deletion of the GNAS imprinted locus (including Gnasxl) in two girls presenting with severe pre- and post-natal growth retardation and intractable feeding difficulties. [electronic resource] by Geneviève, David Sanlaville, Damien Faivre, Laurence Kottler, Marie-Laure Jambou, Marguerite Gosset, Philippe Boustani-Samara, Dinane Pinto, Graziella Ozilou, Catherine Abeguilé, Geneviève Munnich, Arnold Romana, Serge Raoul, Odile Cormier-Daire, Valérie Vekemans, Michel Producer: 20051027 In: European journal of human genetics : EJHG vol. 13 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	96.	Search for genomic imbalances in a cohort of 20 patients with oral-facial-digital syndromes negative for mutations and large rearrangements in the OFD1 gene. [electronic resource] by Thauvin-Robinet, Christel Callier, Patrick Franco, Brunella Zuffardi, Orsetta Payet, Muriel Aral, Bernard Gigot, Nadège Donzel, Anne Mosca-Boidron, Anne-Laure Masurel-Paulet, Alice Huet, Frédéric Teyssier, Jean-Raymond Mugneret, Francine Faivre, Laurence Producer: 20090930 In: American journal of medical genetics. Part A vol. 149A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	97.	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)
	98.	Angelman syndrome: a case series assessing neurological issues in adulthood. [electronic resource] by Giroud, Marie Daubail, Benoît Khayat, Norbert Chouchane, Mondher Berger, Eric Muzard, Emelyne Medeiros de Bustos, Elisabeth Thauvin-Robinet, Christel Faivre, Laurence Masurel, Alice Darmency-Stamboul, Véronique Huet, Frédéric Béjot, Yannick Giroud, Maurice Moulin, Thierry Producer: 20160418 In: European neurology vol. 73 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	99.	An improved method to extract DNA from 1 ml of uncultured amniotic fluid from patients at less than 16 weeks' gestation. [electronic resource] by Mosca-Boidron, Anne-Laure Faivre, Laurence Aho, Serge Marle, Nathalie Truntzer, Caroline Rousseau, Thierry Ragon, Clémence Payet, Muriel Thauvin-Robinet, Christelle Thevenon, Julien El Chehadeh, Salima Huet, Fréderic Sagot, Paul Mugneret, Francine Callier, Patrick Producer: 20131030 In: PloS one vol. 8 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	100.	Successful anti-hepatitis C virus therapy with telaprevir in an HIV/hepatitis C virus co-infected patient with a severe recurrence of hepatitis C virus infection on the liver graft. [electronic resource] by Antonini, Teresa M Furlan, Valerie Teicher, Elina Haim-Boukobza, Stephanie Sebagh, Mylene Coilly, Audrey Bonhomme-Faivre, Laurence Peytavin, Gilles Roque-Afonso, Anne-Marie Vittecoq, Daniel Samuel, Didier Taburet, Anne-Marie Duclos-Vallée, Jean-Charles Producer: 20140430 In: AIDS (London, England) vol. 27 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 233 results.