Resultats de la cerca - Eric Bieth

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

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

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

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A Novel Analog Reasoning Paradigm: New Insights in Intellectually Disabled Patients. per 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

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A recurrent RYR1 mutation associated with early-onset hypotonia and benign disease course per 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

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MINPP1 prevents intracellular accumulation of the chelator inositol hexakisphosphate and is mutated in Pontocerebellar Hypoplasia per 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

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Hearing loss in inherited peripheral neuropathies: Molecular diagnosis by NGS in a French series per 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

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