Hasil Pencarian - Thomas Smol

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  1. 1
    Combination of t(4;14), del(17p13), del(1p32) and 1q21 gain FISH probes identifies clonal heterogeneity and enhances the detection of adverse cytogenetic profiles in 233 newly diagnosed multiple myeloma

    Combination of t(4;14), del(17p13), del(1p32) and 1q21 gain FISH probes identifies clonal heterogeneity and enhances the detection of adverse cytogenetic profiles in 233 newly diag... oleh Thomas Smol, Annika Dufour, Sabine Tricot, Mathieu Wemeau, Laure Stalnikiewicz, Franck Bernardi, Christine Terré, Benoît Ducourneau, Hervé Bisiau, Agnès Daudignon

    Diterbitkan 2017-07-01
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  2. 2
    A Novel Rare Missense Variation of the <i>NOD2</i> Gene: Evidences of Implication in Crohn’s Disease

    A Novel Rare Missense Variation of the <i>NOD2</i> Gene: Evidences of Implication in Crohn’s Disease oleh Sara Frade-Proud’Hon-Clerc, Thomas Smol, Frédéric Frenois, Olivier Sand, Emmanuel Vaillant, Véronique Dhennin, Amélie Bonnefond, Philippe Froguel, Mathurin Fumery, Nathalie Guillon-Dellac, Corinne Gower-Rousseau, Francis Vasseur

    Diterbitkan 2019-02-01
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  3. 3
    Recurrent “outsider” intronic variation in the SLC5A6 gene causes severe mixed axonal and demyelinating neuropathy, cyclic vomiting and optic atrophy in 3 families from Maghreb

    Recurrent “outsider” intronic variation in the SLC5A6 gene causes severe mixed axonal and demyelinating neuropathy, cyclic vomiting and optic atrophy in 3 families from Maghreb oleh Lamisse Mansour-Hendili, Lamisse Mansour-Hendili, Cyril Gitiaux, Cyril Gitiaux, Madeleine Harion, Madeleine Harion, Madeleine Harion, Céline Latouche, Bénédicte Heron, Bénédicte Heron, Tanya Stojkovic, Mélanie Rama, Thomas Smol, Thomas Smol, Anne Sophie Jourdain, Anne Sophie Jourdain, Karine Mention, Yann Nadjar, Manuel Schiff, Manuel Schiff, Manuel Schiff, Julie Lemale, Jamal Ghoumid, Jamal Ghoumid, Frédéric Gottrand, Frédéric Gottrand, Cécile Talbotec, Agnès Rötig, Agnès Rötig, Benoît Funalot, Benoît Funalot, Isabelle Desguerre, Isabelle Desguerre

    Diterbitkan 2024-01-01
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  4. 4
    O46: GenIDA, an international participatory database to better characterize comorbidities of genetic forms of intellectual disability: insights on Koolen-de Vries syndrome

    O46: GenIDA, an international participatory database to better characterize comorbidities of genetic forms of intellectual disability: insights on Koolen-de Vries syndrome oleh Pauline Burger, Florent Colin, Axelle Strehle, Timothée Mazzucotelli, Nicole Collot, Ariane Bouman, Daphna Landau Prat, David Geneviève, Valentin Ruault, Roseline Caumes, Thomas Smol, Jamal Ghoumid, Joost Kummeling, Charlotte Ockeloen, Tjitske Kleefstra, Pierre Parrend, Amélie Piton, David Koolen, Jean-Louis Mandel

    Diterbitkan 2023-01-01
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  5. 5
    Poor prognosis of chromosome 7 clonal aberrations in Philadelphia-negative metaphases and relevance of potential underlying myelodysplastic features in chronic myeloid leukemia

    Poor prognosis of chromosome 7 clonal aberrations in Philadelphia-negative metaphases and relevance of potential underlying myelodysplastic features in chronic myeloid leukemia oleh Audrey Bidet, Stéphanie Dulucq, Thomas Smol, Alice Marceau-Renaut, Stéphane Morisset, Valérie Coiteux, Marie-Pierre Noël-Walter, Franck-Emmanuel Nicolini, Isabelle Tigaud, Isabelle Luquet, Stéphanie Struski, Baptiste Gaillard, Dominique Penther, Sylvie Tondeur, Nathalie Nadal, Eric Hermet, Lauren Véronèse, Delphine Réa, Carine Gervais, Olivier Theisen, Christine Terré, Pascale Cony-Makhoul, Christine Lefebvre, Jean-Baptiste Gaillard, Isabelle Radford, Anne-Laure Vervaeke, Carole Barin, Elise Chapiro, Florence Nguyen-Khac, Gabriel Etienne, Claude Preudhomme, François Xavier Mahon, Catherine Roche-Lestienne

    Diterbitkan 2019-06-01
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  6. 6
    The different clinical facets of SYN1-related neurodevelopmental disorders

    The different clinical facets of SYN1-related neurodevelopmental disorders oleh Ilaria Parenti, Elsa Leitão, Alma Kuechler, Laurent Villard, Laurent Villard, Cyril Goizet, Cyril Goizet, Cyril Goizet, Cécile Courdier, Cécile Courdier, Cécile Courdier, Allan Bayat, Allan Bayat, Allan Bayat, Alessandra Rossi, Alessandra Rossi, Sophie Julia, Ange-Line Bruel, Ange-Line Bruel, Frédéric Tran Mau-Them, Frédéric Tran Mau-Them, Sophie Nambot, Daphné Lehalle, Daphné Lehalle, Marjolaine Willems, Marjolaine Willems, James Lespinasse, Jamal Ghoumid, Jamal Ghoumid, Roseline Caumes, Roseline Caumes, Thomas Smol, Thomas Smol, Salima El Chehadeh, Elise Schaefer, Marie-Thérèse Abi-Warde, Boris Keren, Alexandra Afenjar, Anne-Claude Tabet, Jonathan Levy, Anna Maruani, Ángel Aledo-Serrano, Waltraud Garming, Clara Milleret-Pignot, Anna Chassevent, Marije Koopmans, Nienke E. Verbeek, Richard Person, Rebecca Belles, Gary Bellus, Bonnie A. Salbert, Frank J. Kaiser, Frank J. Kaiser, Laure Mazzola, Laure Mazzola, Philippe Convers, Philippe Convers, Laurine Perrin, Amélie Piton, Amélie Piton, Amélie Piton, Amélie Piton, Gert Wiegand, Gert Wiegand, Andrea Accogli, Andrea Accogli, Francesco Brancati, Francesco Brancati, Fabio Benfenati, Fabio Benfenati, Nicolas Chatron, Nicolas Chatron, David Lewis-Smith, David Lewis-Smith, Rhys H. Thomas, Rhys H. Thomas, Federico Zara, Federico Zara, Pasquale Striano, Pasquale Striano, Gaetan Lesca, Gaetan Lesca, Christel Depienne

    Diterbitkan 2022-12-01
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  7. 7
    Variants in LRRC7 lead to intellectual disability, autism, aggression and abnormal eating behaviors

    Variants in LRRC7 lead to intellectual disability, autism, aggression and abnormal eating behaviors oleh Jana Willim, Daniel Woike, Daniel Greene, Sarada Das, Kevin Pfeifer, Weimin Yuan, Anika Lindsey, Omar Itani, Amber L. Böhme, Debora Tibbe, Hans-Hinrich Hönck, Fatemeh Hassani Nia, Undiagnosed Diseases Network, Michael Zech, Theresa Brunet, Laurence Faivre, Arthur Sorlin, Antonio Vitobello, Thomas Smol, Cindy Colson, Kristin Baranano, Krista Schatz, Allan Bayat, Kelly Schoch, Rebecca Spillmann, Erica E. Davis, Erin Conboy, Francesco Vetrini, Konrad Platzer, Sonja Neuser, Janina Gburek-Augustat, Alexandra Noel Grace, Bailey Mitchell, Alexander Stegmann, Margje Sinnema, Naomi Meeks, Carol Saunders, Maxime Cadieux-Dion, Juliane Hoyer, Julien Van-Gils, Jean-Madeleine de Sainte-Agathe, Michelle L. Thompson, E. Martina Bebin, Monika Weisz-Hubshman, Anne-Claude Tabet, Alain Verloes, Jonathan Levy, Xenia Latypova, Sönke Harder, Gary A. Silverman, Stephen C. Pak, Tim Schedl, Kathleen Freson, Andrew Mumford, Ernest Turro, Christian Schlein, Vandana Shashi, Hans-Jürgen Kreienkamp

    Diterbitkan 2024-09-01
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