Hasil Pencarian - Eric Bieth

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  1. 1
    Early diagnosis and care is achieved but should be improved in infants with Prader-Willi syndrome

    Early diagnosis and care is achieved but should be improved in infants with Prader-Willi syndrome oleh Céline Bar, Gwenaelle Diene, Catherine Molinas, Eric Bieth, Charlotte Casper, Maithé Tauber

    Diterbitkan 2017-06-01
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  2. 2
    Gingival Biopsy to Detect Mosaicism in Overgrowth Syndromes: Report of Two Cases of Megalencephaly-Capillary Malformation Syndrome with Periodontal Anomalies

    Gingival Biopsy to Detect Mosaicism in Overgrowth Syndromes: Report of Two Cases of Megalencephaly-Capillary Malformation Syndrome with Periodontal Anomalies oleh Mathieu Marty, Carole Bonnaud, Natalie Jones, Michel Longy, Frédéric Vaysse, Eric Bieth, Isabelle Bailleul-Forestier

    Diterbitkan 2020-01-01
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  3. 3
    New PRPS1 variant p.(Met68Leu) located in the dimerization area identified in a French CMTX5 patient

    New PRPS1 variant p.(Met68Leu) located in the dimerization area identified in a French CMTX5 patient oleh Justine Lerat, Corinne Magdelaine, Paco Derouault, Hélène Beauvais‐Dzugan, Eric Bieth, Blandine Acket, Marie‐Christine Arne‐Bes, Franck Sturtz, Anne‐Sophie Lia

    Diterbitkan 2019-09-01
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  4. 4
    A Novel Analog Reasoning Paradigm: New Insights in Intellectually Disabled Patients.

    A Novel Analog Reasoning Paradigm: New Insights in Intellectually Disabled Patients. oleh Aurore Curie, Amandine Brun, Anne Cheylus, Anne Reboul, Tatjana Nazir, Gérald Bussy, Karine Delange, Yves Paulignan, Sandra Mercier, Albert David, Stéphanie Marignier, Lydie Merle, Bénédicte de Fréminville, Fabienne Prieur, Michel Till, Isabelle Mortemousque, Annick Toutain, Eric Bieth, Renaud Touraine, Damien Sanlaville, Jamel Chelly, Jian Kong, Daniel Ott, Behrouz Kassai, Nouchine Hadjikhani, Randy L Gollub, Vincent des Portes

    Diterbitkan 2016-01-01
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  5. 5
    Clinical Utility of a Unique Genome-Wide DNA Methylation Signature for <i>KMT2A</i>-Related Syndrome

    Clinical Utility of a Unique Genome-Wide DNA Methylation Signature for <i>KMT2A</i>-Related Syndrome oleh Aidin Foroutan, Sadegheh Haghshenas, Pratibha Bhai, Michael A. Levy, Jennifer Kerkhof, Haley McConkey, Marcello Niceta, Andrea Ciolfi, Lucia Pedace, Evelina Miele, David Genevieve, Solveig Heide, Mariëlle Alders, Giuseppe Zampino, Giuseppe Merla, Mélanie Fradin, Eric Bieth, Dominique Bonneau, Klaus Dieterich, Patricia Fergelot, Elise Schaefer, Laurence Faivre, Antonio Vitobello, Silvia Maitz, Rita Fischetto, Cristina Gervasini, Maria Piccione, Ingrid van de Laar, Marco Tartaglia, Bekim Sadikovic, Anne-Sophie Lebre

    Diterbitkan 2022-02-01
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  6. 6
    A recurrent RYR1 mutation associated with early-onset hypotonia and benign disease course

    A recurrent RYR1 mutation associated with early-onset hypotonia and benign disease course oleh Valérie Biancalana, John Rendu, Annabelle Chaussenot, Helen Mecili, Eric Bieth, Mélanie Fradin, Sandra Mercier, Maud Michaud, Marie-Christine Nougues, Laurent Pasquier, Sabrina Sacconi, Norma B. Romero, Pascale Marcorelles, François Jérôme Authier, Antoinette Gelot Bernabe, Emmanuelle Uro-Coste, Claude Cances, Bertrand Isidor, Armelle Magot, Marie-Christine Minot-Myhie, Yann Péréon, Julie Perrier-Boeswillwald, Gilles Bretaudeau, Nicolas Dondaine, Alison Bouzenard, Mégane Pizzimenti, Bruno Eymard, Ana Ferreiro, Jocelyn Laporte, Julien Fauré, Johann Böhm

    Diterbitkan 2021-09-01
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  7. 7
    MINPP1 prevents intracellular accumulation of the chelator inositol hexakisphosphate and is mutated in Pontocerebellar Hypoplasia

    MINPP1 prevents intracellular accumulation of the chelator inositol hexakisphosphate and is mutated in Pontocerebellar Hypoplasia oleh Ekin Ucuncu, Karthyayani Rajamani, Miranda S. C. Wilson, Daniel Medina-Cano, Nami Altin, Pierre David, Giulia Barcia, Nathalie Lefort, Céline Banal, Marie-Thérèse Vasilache-Dangles, Gaële Pitelet, Elsa Lorino, Nathalie Rabasse, Eric Bieth, Maha S. Zaki, Meral Topcu, Fatma Mujgan Sonmez, Damir Musaev, Valentina Stanley, Christine Bole-Feysot, Patrick Nitschké, Arnold Munnich, Nadia Bahi-Buisson, Catherine Fossoud, Fabienne Giuliano, Laurence Colleaux, Lydie Burglen, Joseph G. Gleeson, Nathalie Boddaert, Adolfo Saiardi, Vincent Cantagrel

    Diterbitkan 2020-11-01
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  8. 8
    Hearing loss in inherited peripheral neuropathies: Molecular diagnosis by NGS in a French series

    Hearing loss in inherited peripheral neuropathies: Molecular diagnosis by NGS in a French series oleh Justine Lerat, Corinne Magdelaine, Anne‐Françoise Roux, Léa Darnaud, Hélène Beauvais‐Dzugan, Steven Naud, Laurence Richard, Paco Derouault, Karima Ghorab, Laurent Magy, Jean‐Michel Vallat, Pascal Cintas, Eric Bieth, Marie‐Christine Arne‐Bes, Cyril Goizet, Caroline Espil‐Taris, Hubert Journel, Annick Toutain, Jon Andoni Urtizberea, Odile Boespflug‐Tanguy, Fanny Laffargue, Philippe Corcia, Laurent Pasquier, Mélanie Fradin, Sylva Napuri, Jonathan Ciron, Jean‐Marc Boulesteix, Franck Sturtz, Anne‐Sophie Lia

    Diterbitkan 2019-09-01
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