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	1.	[A case of ectrodactyly: a private pilot with a single finger on each hand]. [electronic resource] by Milhaud, Alain Piussan, Charles Kapandji, Adalbert Mathieu, Michèle Doutrellot, Pierre-Louis Producer: 20091209 In: Bulletin de l'Academie nationale de medecine vol. 193 Availability: No items available. Save to lists Add to cart (remove)
	2.	Nicolaides-Baraitser syndrome: confirmatory report of a syndrome with sparse hair, mental retardation, and short stature and metacarpals. [electronic resource] by Morin, Gilles Villemain, Lucie Baumann, Clarisse Mathieu, Michèle Blanc, Nathalie Verloes, Alain Producer: 20040527 In: Clinical dysmorphology vol. 12 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3.	Additional familial case of subtotal leukonychia and sebaceous cysts (Bauer syndrome): belong the nervous tumours to the phenotype? [electronic resource] by Morin, Gilles Desenclos, Christine Jeanpetit, Cécile Lévy, Nicolas Deramond, Hervé Mathieu, Michèle Producer: 20081113 In: European journal of medical genetics vol. 51 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4.	[What management for the asymptomatic men carriers of BRCA1 or 2 mutation? Results of a survey in the French oncogenetic centers]. [electronic resource] by Brachot-Simeonova, Iglika Morin, Gilles Gillaux, Claire Demeer, Bénédicte Gondry, Jean Mathieu, Michèle Fauvet, Raffaèle Producer: 20120530 In: Bulletin du cancer vol. 99 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5.	Evidence of constitutional MLH1 epimutation associated to transgenerational inheritance of cancer susceptibility. [electronic resource] by Crépin, Michel Dieu, Marie-Claire Lejeune, Sophie Escande, Fabienne Boidin, Denis Porchet, Nicole Morin, Gilles Manouvrier, Sylvie Mathieu, Michèle Buisine, Marie-Pierre Producer: 20120423 In: Human mutation vol. 33 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	6.	Deleterious mutations in exon 1 of MECP2 in Rett syndrome. [electronic resource] by Quenard, Aline Yilmaz, Saliha Fontaine, Hervé Bienvenu, Thierry Moncla, Anne des Portes, Vincent Rivier, François Mathieu, Michèle Raux, Grégory Jonveaux, Philippe Philippe, Christophe Producer: 20060928 In: European journal of medical genetics vol. 49 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	7.	Growth hormone deficiency and pituitary malformation in a recurrent Cat-Eye syndrome: a family report. [electronic resource] by Jedraszak, Guillaume Braun, Karine Receveur, Aline Decamp, Matthieu Andrieux, Joris Rabbind Singh, Amrathlal Copin, Henri Bremond-Gignac, Dominique Mathieu, Michèle Rochette, Jacques Morin, Gilles Producer: 20160823 In: Annales d'endocrinologie vol. 76 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	8.	Osteopathia striata cranial sclerosis: non-random X-inactivation suggestive of X-linked dominant inheritance. [electronic resource] by Viot, Géraldine Lacombe, Didier David, Albert Mathieu, Michèle de Broca, Alain Faivre, Laurence Gigarel, Nadine Munnich, Arnold Lyonnet, Stanislas Le Merrer, Martine Cormier-Daire, Valérie Producer: 20020306 In: American journal of medical genetics vol. 107 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	9.	Genotype-phenotype correlation in four 15q24 deleted patients identified by array-CGH. [electronic resource] by Andrieux, Joris Dubourg, Christèle Rio, Marlène Attie-Bitach, Tania Delaby, Elsa Mathieu, Michèle Journel, Hubert Copin, Henri Blondeel, Eléonore Doco-Fenzy, Martine Landais, Emilie Delobel, Bruno Odent, Sylvie Manouvrier-Hanu, Sylvie Holder-Espinasse, Muriel Producer: 20100127 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)
	10.	Kallmann syndrome: mutations in the genes encoding prokineticin-2 and prokineticin receptor-2. [electronic resource] by Dodé, Catherine Teixeira, Luis Levilliers, Jacqueline Fouveaut, Corinne Bouchard, Philippe Kottler, Marie-Laure Lespinasse, James Lienhardt-Roussie, Anne Mathieu, Michèle Moerman, Alexandre Morgan, Graeme Murat, Arnaud Toublanc, Jean-Edmont Wolczynski, Slawomir Delpech, Marc Petit, Christine Young, Jacques Hardelin, Jean-Pierre Producer: 20061226 In: PLoS genetics vol. 2 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	11.	Severe prenatal renal anomalies associated with mutations in HNF1B or PAX2 genes. [electronic resource] by Madariaga, Leire Morinière, Vincent Jeanpierre, Cécile Bouvier, Raymonde Loget, Philippe Martinovic, Jelena Dechelotte, Pierre Leporrier, Nathalie Thauvin-Robinet, Christel Jensen, Uffe Birk Gaillard, Dominique Mathieu, Michele Turlin, Bruno Attie-Bitach, Tania Salomon, Rémi Gübler, Marie-Claire Antignac, Corinne Heidet, Laurence Producer: 20140305 In: Clinical journal of the American Society of Nephrology : CJASN vol. 8 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	12.	Genomic deletions of OFD1 account for 23% of oral-facial-digital type 1 syndrome after negative DNA sequencing. [electronic resource] by Thauvin-Robinet, Christel Franco, Brunella Saugier-Veber, Pascale Aral, Bernard Gigot, Nadège Donzel, Anne Van Maldergem, Lionel Bieth, Eric Layet, Valérie Mathieu, Michèle Teebi, Ahmad Lespinasse, James Callier, Patrick Mugneret, Francine Masurel-Paulet, Alice Gautier, Elodie Huet, Frédéric Teyssier, Jean-Raymond Tosi, Mario Frébourg, Thierry Faivre, Laurence Producer: 20090410 In: Human mutation vol. 30 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	13.	Hypophosphatasia: molecular testing of 19 prenatal cases and discussion about genetic counseling. [electronic resource] by Simon-Bouy, Brigitte Taillandier, Agnès Fauvert, Delphine Brun-Heath, Isabelle Serre, Jean-Louis Armengod, Carmen G Bialer, Martin G Mathieu, Michèle Cousin, Jacques Chitayat, David Liebelt, Jan Feldman, Barbara Gérard-Blanluet, Marion Körtge-Jung, Stefani King, Cath Laivuori, Hannele Le Merrer, Martine Mehta, Sarju Jern, Christina Sharif, Saba Prieur, Fabienne Gillessen-Kaesbach, Gabriele Zankl, Andreas Mornet, Etienne Producer: 20090319 In: Prenatal diagnosis vol. 28 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	14.	A comparative phenotypic study of kallmann syndrome patients carrying monoallelic and biallelic mutations in the prokineticin 2 or prokineticin receptor 2 genes. [electronic resource] by Sarfati, Julie Guiochon-Mantel, Anne Rondard, Philippe Arnulf, Isabelle Garcia-Piñero, Alfons Wolczynski, Slawomir Brailly-Tabard, Sylvie Bidet, Maud Ramos-Arroyo, Maria Mathieu, Michèle Lienhardt-Roussie, Anne Morgan, Graeme Turki, Zinet Bremont, Catherine Lespinasse, James Du Boullay, Hélène Chabbert-Buffet, Nathalie Jacquemont, Sébastien Reach, Gérard De Talence, Nicole Tonella, Paolo Conrad, Bernard Despert, Francois Delobel, Bruno Brue, Thierry Bouvattier, Claire Cabrol, Sylvie Pugeat, Michel Murat, Arnaud Bouchard, Philippe Hardelin, Jean-Pierre Dodé, Catherine Young, Jacques Producer: 20100302 In: The Journal of clinical endocrinology and metabolism vol. 95 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	15.	15q11.2 microdeletion (BP1-BP2) and developmental delay, behaviour issues, epilepsy and congenital heart disease: a series of 52 patients. [electronic resource] by Vanlerberghe, Clémence Petit, Florence Malan, Valérie Vincent-Delorme, Catherine Bouquillon, Sonia Boute, Odile Holder-Espinasse, Muriel Delobel, Bruno Duban, Bénédicte Vallee, Louis Cuisset, Jean-Marie Lemaitre, Marie-Pierre Vantyghem, Marie-Christine Pigeyre, Marie Lanco-Dosen, Sandrine Plessis, Ghislaine Gerard, Marion Decamp, Matthieu Mathieu, Michèle Morin, Gilles Jedraszak, Guillaume Bilan, Frédéric Gilbert-Dussardier, Brigitte Fauvert, Delphine Roume, Joëlle Cormier-Daire, Valérie Caumes, Roseline Puechberty, Jacques Genevieve, David Sarda, Pierre Pinson, Lucie Blanchet, Patricia Lemeur, Nathalie Sheth, Frenny Manouvrier-Hanu, Sylvie Andrieux, Joris Producer: 20151224 In: European journal of medical genetics vol. 58 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	16.	Phenotypic spectrum of Simpson-Golabi-Behmel syndrome in a series of 42 cases with a mutation in GPC3 and review of the literature. [electronic resource] by Cottereau, Edouard Mortemousque, Isabelle Moizard, Marie-Pierre Bürglen, Lydie Lacombe, Didier Gilbert-Dussardier, Brigitte Sigaudy, Sabine Boute, Odile David, Albert Faivre, Laurence Amiel, Jeanne Robertson, Robert Viana Ramos, Fabiana Bieth, Eric Odent, Sylvie Demeer, Bénédicte Mathieu, Michéle Gaillard, Dominique Van Maldergem, Lionel Baujat, Geneviéve Maystadt, Isabelle Héron, Delphine Verloes, Alain Philip, Nicole Cormier-Daire, Valérie Frouté, Marie-Françoise Pinson, Lucile Blanchet, Patricia Sarda, Pierre Willems, Marjolaine Jacquinet, Adeline Ratbi, Ilham Van Den Ende, Jenneke Lackmy-Port Lis, Marylin Goldenberg, Alice Bonneau, Dominique Rossignol, Sylvie Toutain, Annick Producer: 20131017 In: American journal of medical genetics. Part C, Seminars in medical genetics vol. 163C Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	17.	Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection. [electronic resource] by Crow, Yanick J Leitch, Andrea Hayward, Bruce E Garner, Anna Parmar, Rekha Griffith, Elen Ali, Manir Semple, Colin Aicardi, Jean Babul-Hirji, Riyana Baumann, Clarisse Baxter, Peter Bertini, Enrico Chandler, Kate E Chitayat, David Cau, Daniel Déry, Catherine Fazzi, Elisa Goizet, Cyril King, Mary D Klepper, Joerg Lacombe, Didier Lanzi, Giovanni Lyall, Hermione Martínez-Frías, María Luisa Mathieu, Michèle McKeown, Carole Monier, Anne Oade, Yvette Quarrell, Oliver W Rittey, Christopher D Rogers, R Curtis Sanchis, Amparo Stephenson, John B P Tacke, Uta Till, Marianne Tolmie, John L Tomlin, Pam Voit, Thomas Weschke, Bernhard Woods, C Geoffrey Lebon, Pierre Bonthron, David T Ponting, Chris P Jackson, Andrew P Producer: 20060911 In: Nature genetics vol. 38 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	18.	Stickler syndrome caused by COL2A1 mutations: genotype-phenotype correlation in a series of 100 patients. [electronic resource] by Hoornaert, Kristien P Vereecke, Inge Dewinter, Chantal Rosenberg, Thomas Beemer, Frits A Leroy, Jules G Bendix, Laila Björck, Erik Bonduelle, Maryse Boute, Odile Cormier-Daire, Valerie De Die-Smulders, Christine Dieux-Coeslier, Anne Dollfus, Hélène Elting, Mariet Green, Andrew Guerci, Veronica I Hennekam, Raoul C M Hilhorts-Hofstee, Yvonne Holder, Muriel Hoyng, Carel Jones, Kristi J Josifova, Dragana Kaitila, Ilkka Kjaergaard, Suzanne Kroes, Yolande H Lagerstedt, Kristina Lees, Melissa Lemerrer, Martine Magnani, Cinzia Marcelis, Carlo Martorell, Loreto Mathieu, Michèle McEntagart, Meriel Mendicino, Angela Morton, Jenny Orazio, Gabrielli Paquis, Véronique Reish, Orit Simola, Kalle O J Smithson, Sarah F Temple, Karen I Van Aken, Elisabeth Van Bever, Yolande van den Ende, Jenneke Van Hagen, Johanna M Zelante, Leopoldo Zordania, Riina De Paepe, Anne Leroy, Bart P De Buyzere, Marc Coucke, Paul J Mortier, Geert R Producer: 20101101 In: European journal of human genetics : EJHG vol. 18 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)