Rezultaty - Elisabeth Flori

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  1. 1
    Circulating cell-free fetal DNA in maternal serum appears to originate from cyto- and syncytio-trophoblastic cells. Case report

    Circulating cell-free fetal DNA in maternal serum appears to originate from cyto- and syncytio-trophoblastic cells. Case report od Elisabeth Flori

    Wydane 2004
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  2. 2
    Transient ciliogenesis involving Bardet-Biedl syndrome proteins is a fundamental characteristic of adipogenic differentiation

    Transient ciliogenesis involving Bardet-Biedl syndrome proteins is a fundamental characteristic of adipogenic differentiation od Vincent Marion, Corinne Stoetzel, Dominique Schlicht, Nadia Messaddeq, Michael Koch, Elisabeth Flori, Jean Marc Danse, Jean‐Louis Mandel, Hélène Dollfus

    Wydane 2009
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  3. 3
    Severe combined immunodeficiency caused by deficiency in either the δ or the ε subunit of CD3

    Severe combined immunodeficiency caused by deficiency in either the δ or the ε subunit of CD3 od Geneviève de Saint Basile, Frédéric Geissmann, Elisabeth Flori, B. Uring‐Lambert, Claire Soudais, Marina Cavazzana, Anne Durandy, Nada Jabado, Alain Fischer, Françoise Le Deist

    Wydane 2004
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  4. 4
    Severe combined immunodeficiency caused by deficiency in either the δ or the ε subunit of CD3

    Severe combined immunodeficiency caused by deficiency in either the δ or the ε subunit of CD3 od Geneviève de Saint Basile, Frédéric Geissmann, Elisabeth Flori, B. Uring‐Lambert, Claire Soudais, Marina Cavazzana, Anne Durandy, Nada Jabado, Alain Fischer, Françoise Le Deist

    Wydane 2004
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  5. 5
    Osteosclerotic bone dysplasia in siblings with a Fam20C mutation

    Osteosclerotic bone dysplasia in siblings with a Fam20C mutation od Mélanie Fradin, Corinne Stoetzel, Jean Muller, M. Koob, D. Christmann, Christian Debry, M F Kohler, Monica Isnard, Didier Astruc, P Desprez, C Zorres, Elisabeth Flori, Hélène Dollfus, Bérénice Doray

    Wydane 2010
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  6. 6
    Genetic Compensation in a Human Genomic Disorder

    Genetic Compensation in a Human Genomic Disorder od Nadège Calmels, Pascale Saugier‐Veber, Françoise Girard‐Lemaire, Gabrielle Rudolf, Bérénice Doray, Éric Guérin, Pierre Kuhn, Mathilde Arrivé, Catherine Gilch, Evelyne Schmitt, Séverine Fehrenbach, Albert Schnebelen, Thierry Frébourg, Elisabeth Flori

    Wydane 2009
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  7. 7
    Exome sequencing of Bardet–Biedl syndrome patient identifies a null mutation in the BBSome subunit<i>BBIP1</i>(<i>BBS18</i>)

    Exome sequencing of Bardet–Biedl syndrome patient identifies a null mutation in the BBSome subunit<i>BBIP1</i>(<i>BBS18</i>) od Sophie Scheidecker, Christelle Etard, Nathan W. Pierce, Véronique Geoffroy, Élise Schaefer, Jean Muller, Kirsley Chennen, Elisabeth Flori, Valérie Pelletier, Olivier Poch, Vincent Marion, Corinne Stoetzel, Uwe Strähle, Maxence V. Nachury, Hélène Dollfus

    Wydane 2013
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  8. 8
    DYNC2H1 Mutations Cause Asphyxiating Thoracic Dystrophy and Short Rib-Polydactyly Syndrome, Type III

    DYNC2H1 Mutations Cause Asphyxiating Thoracic Dystrophy and Short Rib-Polydactyly Syndrome, Type III od Nathalie Dagoneau, Marie Goulet, David Geneviève, Yves Sznajer, Jéléna Martinovic, Sarah Smithson, Céline Huber, Geneviève Baujat, Elisabeth Flori, Laura Tecco, Denise P. Cavalcanti, Anne‐Lise Delezoide, Valérie Serre, Martine Le Merrer, Arnold Münnich, Valérie Cormier‐Daire

    Wydane 2009
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  9. 9
    ADAMTSL2 mutations in geleophysic dysplasia demonstrate a role for ADAMTS-like proteins in TGF-β bioavailability regulation

    ADAMTSL2 mutations in geleophysic dysplasia demonstrate a role for ADAMTS-like proteins in TGF-β bioavailability regulation od Carine Le Goff, Fanny Morice‐Picard, Nathalie Dagoneau, Lauren W. Wang, Claire Perrot, Yanick J. Crow, Florence Bauer, Elisabeth Flori, C. Prost‐Squarcioni, Deborah Krakow, Gaoxiang Ge, Daniel S. Greenspan, Damien Bonnet, Martine Le Merrer, Arnold Münnich, Suneel Apte, Valérie Cormier‐Daire

    Wydane 2008
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  10. 10
    Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy

    Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy od Claire Navarro, Annachiara De Sandre‐Giovannoli, Rafaëlle Bernard, Irène Boccaccio, Amandine Boyer, David Geneviève, S. Hadj‐Rabia, C. Gaudy‐Marqueste, Henk Sillevis Smitt, P. Vabres, Laurence Bonhomme‐Faivre, Alain Verloès, Ton van Essen, Elisabeth Flori, Raoul C. M. Hennekam, Frits A. Beemer, Nicole Laurent, Martine Le Merrer, Pierre Cau, Nicolas Lévy

    Wydane 2004
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  11. 11
    Genomic study of severe fetal anomalies and discovery of GREB1L mutations in renal agenesis

    Genomic study of severe fetal anomalies and discovery of GREB1L mutations in renal agenesis od Sarah Boissel, Catherine Fallet‐Bianco, David Chitayat, Valérie Kremer, Christina Nassif, Françoise Rypens, Marie‐Ange Delrue, Dorothée Dal Soglio, Luc L. Oligny, Natalie Patey, Elisabeth Flori, M. Cloutier, David A. Dyment, Philippe M. Campeau, Aspasia Karalis, Sonia Nizard, William D. Fraser, François Audibert, Emmanuelle Lemyre, Guy A. Rouleau, Fadi F. Hamdan, Zoha Kibar, Jacques L. Michaud

    Wydane 2017
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  12. 12
    SRPX2 mutations in disorders of language cortex and cognition

    SRPX2 mutations in disorders of language cortex and cognition od Patrice Roll, Gabrielle Rudolf, Sandrine Pereira, Barbara Royer, Ingrid E. Scheffer, Annick Massacrier, Mp Valenti, N. Roeckel-Trevisol, Sara Jamali, Christophe Béclin, Caroline Seegmüller, Mn Metz-Lutz, Arnaud Lemainque, Marc Delépine, Christophe Caloustian, Anne de Saint Martin, Nadine Bruneau, D. Depétris, Marie‐Geneviève Mattéi, Elisabeth Flori, Andrée Robaglia‐Schlupp, Nicolas Lévy, Ba Neubauer, Rivka Ravid, Christian Marescaux, Samuel F. Berkovic, Édouard Hirsch, Mark Lathrop, P. Cau, Pierre Szepetowski

    Wydane 2006
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  13. 13
    Molecular characterization of 1q44 microdeletion in 11 patients reveals three candidate genes for intellectual disability and seizures

    Molecular characterization of 1q44 microdeletion in 11 patients reveals three candidate genes for intellectual disability and seizures od Gaëlle Thierry, Claire Bénéteau, Olivier Pichon, Elisabeth Flori, Bertrand Isidor, Françoise Popelard, Marie‐Ange Delrue, Laëtitia Duboscq-Bidot, Ann‐Charlotte Thuresson, Bregje W.M. van Bon, Dorothée Cailley, Caroline Rooryck, Agathe Paubel, Corinne Métay, A. Dusser, Laurent Pasquier, Mylène Béri, Céline Bonnet, Sylvie Jaillard, Christèle Dubourg, Bassim Tou, Marie‐Pierre Quéré, Cecilia Soussi‐Zander, Annick Toutain, Didier Lacombe, Benoı̂t Arveiler, Bert B.A. de Vries, Philippe Jonveaux, Albert David, Cédric Le Caignec

    Wydane 2012
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  14. 14
    Molecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasia

    Molecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasia od Slimane Allali, Carine Le Goff, I. Pressac-Diebold, G. Pfennig, Clémentine Mahaut, Nathalie Dagoneau, Yasemin Alanay, Angela F. Brady, Yanick J. Crow, Koenraad Devriendt, Valérie Drouin‐Garraud, Elisabeth Flori, D. Genevieve, R Hennekam, Jane A. Hurst, Deborah Krakow, M Le Merrer, Klaske D. Lichtenbelt, Sally Ann Lynch, Stanislas Lyonnet, K D MacDermot, Sahar Mansour, André Mégarbané, Helena G. Dos Santos, M. Splitt, Andrea Superti‐Furga, Sheila Unger, Denise Williams, A Munnich, Valérie Cormier‐Daire

    Wydane 2011
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  15. 15
    A French multicenter study of over 700 patients with 22q11 deletions diagnosed using FISH or aCGH

    A French multicenter study of over 700 patients with 22q11 deletions diagnosed using FISH or aCGH od Céline Poirsier, Justine Besseau-Ayasse, Caroline Schluth–Bolard, Jérôme Toutain, Chantal Missirian, Cédric Le Caignec, Anne Bazin, Marie Christine de Blois, Paul Kuentz, Marie Catty, Agnès Choiset, Ghislaine Plessis, Audrey Basinko, Pascaline Létard, Elisabeth Flori, Mélanie Jimenez, Mylène Valduga, Emilie Landais, Hakima Lallaoui, François Cartault, James Lespinasse, Dominique Martin–Coignard, Patrick Callier, Céline Pebrel‐Richard, Marie-France Portnoı̈, Tiffany Busa, Aline Receveur, Florence Amblard, Catherine Yardin, Radu Harbuz, Fabienne Prieur, Nathalie Le Meur, Eva Pipiras, Pascale Kleinfinger, François Vialard, Martine Doco‐Fenzy

    Wydane 2015
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  16. 16
    Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing

    Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing od Claire Redin, Bénédicte Gérard, Julia Lauer, Yvan Herenger, Jean Muller, Angélique Quartier, Alice Masurel‐Paulet, Marjolaine Willems, Gaëtan Lesca, Salima El-Chehadeh, Stéphanie Le Gras, Serge Vicaire, Muriel Philipps, Michaël Dumas, Véronique Geoffroy, Claire Feger, Nicolas Haumesser, Yves Alembik, Magalie Barth, Dominique Bonneau, Estelle Colin, Hélène Dollfus, Bérénice Doray, Marie‐Ange Delrue, Valérie Drouin‐Garraud, Elisabeth Flori, Mélanie Fradin, Christine Francannet, Alice Goldenberg, Serge Lumbroso, Michèle Mathieu‐Dramard, Dominique Martin–Coignard, Didier Lacombe, Gilles Morin, Anne Polge, Sylvie Sukno, Christel Thauvin‐Robinet, Julien Thévenon, Martine Doco‐Fenzy, David Geneviève, Pierre Sarda, Patrick Edery, Bertrand Isidor, Bernard Jost, Laurence Olivier-Faivre, Jean‐Louis Mandel, Amélie Piton

    Wydane 2014
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  17. 17
    Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus

    Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus od Sébastien Jacquemont, Alexandre Reymond, Flore Zufferey, Louise Harewood, Robin Walters, Zoltán Kutalik, Danielle Martinet, Yiping Shen, Armand Valsesia, Noam D. Beckmann, Guðmar Þorleifsson, Marco Belfiore, Sonia Bouquillon, Dominique Campion, Nicole de Leeuw, Bert B.A. de Vries, Tõnu Esko, Bridget A. Fernandez, Fernando Fernández‐Aranda, José Manuel Fernández‐Real, Mónica Gratacòs, Audrey Guilmatre, Juliane Hoyer, Marjo‐Riitta Järvelin, R. Frank Kooy, Ants Kurg, Cédric Le Caignec, Katrin Männik, Orah S. Platt, Damien Sanlaville, Mieke M. van Haelst, Sergi Villatoro, Faida Walha, Bai-Lin Wu, Yongguo Yu, Azzedine Aboura, Marie‐Claude Addor, Yves Alembik, Stylianos E. Antonarakis, Benoı̂t Arveiler, Magalie Barth, Nathalie Bednarek, Frédérique Béna, Sven Bergmann, Mylène Béri, Laura Bernardini, Bettina Blaumeiser, Dominique Bonneau, Armand Bottani, Odile Boute, Han G. Brunner, Dorothée Cailley, Patrick Callier, Jean Chiésa, Jacqueline Chrast, Lachlan Coin, Charles Coutton, Jean‐Marie Cuisset, J. Cuvellier, Albert David, Bénédicte de Fréminville, Bruno Delobel, Marie‐Ange Delrue, Bénédicte Demeer, Dominique Descamps, Gérard Didelot, Klaus Dieterich, Vittoria Disciglio, Martine Doco‐Fenzy, Séverine Drunat, Bénédicte Duban‐Bedu, Christèle Dubourg, Julia S. El-Sayed Moustafa, Paul Elliott, Brigitte H. W. Faas, Laurence Faivre, Anne Faudet, Florence Fellmann, Alessandra Ferrarini, Richard Fisher, Elisabeth Flori, Lukas Forer, Dominique Gaillard, Marion Gérard, Christian Gieger, Stefania Gimelli, Giorgio Gimelli, Hans J. Grabe, Agnès Guichet, Olivier Guillin, Anna‐Liisa Hartikainen, Delphine Héron, Loyse Hippolyte, Muriel Holder, Georg Homuth, Bertrand Isidor, Sylvie Jaillard, Zdenek Jaros, Susana Jiménez‐Múrcia, Géraldine Joly Helas

    Wydane 2011
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  18. 18
    Integrated clinical and omics approach to rare diseases: novel genes and oligogenic inheritance in holoprosencephaly

    Integrated clinical and omics approach to rare diseases: novel genes and oligogenic inheritance in holoprosencephaly od Artem Kim, Clara Savary, Christèle Dubourg, Wilfrid Carré, Charlotte Mouden, Houda Hamdi‐Rozé, Hélène Guyodo, Jérôme Le Douce, Emmanuelle Génin, Dominique Campion, Jean‐François Dartigues, Jean-François Deleuze, Jean‐Charles Lambert, Richard Redon, Thomas Ludwig, Benjamin Grenier‐Boley, Sébastien Letort, Pierre Lindenbaum, Vincent Meyer, Olivier Quenez, Christian Dina, Céline Bellenguez, Camille Charbonnier-Le Clézio, Joanna Giemza, Stéphanie Chatel, Claude Férec, Hervé Le Marec, Luc Letenneur, Gaël Nicolas, Karen Rouault, Delphine Bacq, Anne Boland, Doris Lechner, Cisca Wijmenga, Morris A. Swertz, P. Eline Slagboom, Gert‐Jan B. van Ommen, Cornelia M. van Duijn, Dorret I. Boomsma, Paul I. W. de Bakker, Jasper Bovenberg, P. Eline Slagboom, Anton J.M. de Craen, Marian Beekman, Albert Hofman, Dorret I. Boomsma, Gonneke Willemsen, Bruce H. R. Wolffenbuttel, Mathieu Platteel, Yuanping Du, Ruoyan Chen, Hongzhi Cao, Rui Cao, Yushen Sun, Jeremy Sujie Cao, Morris A. Swertz, Freerk van Dijk, Pieter B. Neerincx, Patrick Deelen, Martijn Dijkstra, George Byelas, Alexandros Kanterakis, Jan Bot, Kai Ye, Eric-Wubbo Lameijer, Martijn Vermaat, Jeroen F. J. Laros, Johan T. den Dunnen, Peter de Knijff, Lennart C. Karssen, Elisa M. van Leeuwen, Najaf Amin, Vyacheslav Koval, Fernando Rivadeneira, Karol Estrada, Jayne Y. Hehir‐Kwa, Joep de Ligt, Abdel Abdellaoui, Jouke‐Jan Hottenga, V Mathijs Kattenberg, David van Enckevort, Hailiang Mei, Mark Santcroos, Barbera D. C. van Schaik, Robert E. Handsaker, Steven A. McCarroll, Evan E. Eichler, Arthur Ko, Peter H. Sudmant, Laurent C. Francioli, Wigard P. Kloosterman, Isaäc J. Nijman, Victor Guryev, Paul I. W. de Bakker, Laurent Pasquier, Elisabeth Flori, Marie Gonzalès, Claire Bénéteau, Odile Boute, Tania Attié‐Bitach

    Wydane 2018
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