Incidental diagnosis of mucopolysaccharidosis type I in an infant with chronic intestinal pseudoobstruction by exome sequencing by Auriane Cospain, Christèle Dubourg, Swellen Gastineau, Samia Pichard, Virginie Gandemer, Jacinthe Bonneau, Marie de Tayrac, Caroline Moreau, Sylvie Odent, Laurent Pasquier, Lena Damaj, Alinoë Lavillaureix

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Pleiotropic Mechanisms Indicated for Sex Differences in Autism. by Ileena Mitra, Kathryn Tsang, Christine Ladd-Acosta, Lisa A Croen, Kimberly A Aldinger, Robert L Hendren, Michela Traglia, Alinoë Lavillaureix, Noah Zaitlen, Michael C Oldham, Pat Levitt, Stanley Nelson, David G Amaral, Irva Hertz-Picciotto, M Daniele Fallin, Lauren A Weiss

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Correction: Pleiotropic Mechanisms Indicated for Sex Differences in Autism. by Ileena Mitra, Kathryn Tsang, Christine Ladd-Acosta, Lisa A Croen, Kimberly A Aldinger, Robert L Hendren, Michela Traglia, Alinoë Lavillaureix, Noah Zaitlen, Michael C Oldham, Pat Levitt, Stanley Nelson, David G Amaral, Irva Hertz-Picciotto, M Daniele Fallin, Lauren A Weiss

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Overlapping Phenotypes Associated With CYP24A1, SLC34A1, and SLC34A3 Mutations: A Cohort Study of Patients With Hypersensitivity to Vitamin D by Arnaud Molin, Arnaud Molin, Arnaud Molin, Arnaud Molin, Sandrine Lemoine, Sandrine Lemoine, Martin Kaufmann, Pierre Breton, Marie Nowoczyn, Marie Nowoczyn, Céline Ballandonne, Nadia Coudray, Hervé Mittre, Hervé Mittre, Hervé Mittre, Nicolas Richard, Nicolas Richard, Amélie Ryckwaert, Alinoe Lavillaureix, Glenville Jones, Justine Bacchetta, Justine Bacchetta, Justine Bacchetta, Justine Bacchetta, Marie-Laure Kottler, Marie-Laure Kottler, Marie-Laure Kottler

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A phase II double-blind multicentre, placebo-controlled trial to assess the efficacy and safety of alpelisib (BYL719) in paediatric and adult patients with Megalencephaly-CApillary... by Jean-Marc Treluyer, Benedicte Demeer, Laurence Faivre, Marc Bardou, Nathalie Boddaert, Paul Kuentz, Florence Petit, Christine Francannet, Pierre Vabres, Nadia Bahi-Buisson, Estelle Colin, Laurent Guibaud, Romaric Loffroy, Maxime Luu, Caroline Racine, Aurore Garde, Philippe Khau Van Kien, Aurore Curie, Nawale Hadouiri, Aurélie Espitalier, Agnès Maurer, Maud Carpentier, Adélaide Rega, Mouna Chebbi, Julie Charligny, Guillaume Canaud, Camille Fleck, Amelie Cransac, Elise Boucher-Brischoux, Adélaïde Brosseau-Beauvir, Florian Cherik, Alice Phan, Michaela Semeraro, Marion Nys, Charles Joris Roux, Alinoë Lavillaureix, Isabelle Maruani

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Prenatal diagnosis by trio exome sequencing in fetuses with ultrasound anomalies: A powerful diagnostic tool by Frédéric Tran Mau-Them, Frédéric Tran Mau-Them, Julian Delanne, Anne-Sophie Denommé-Pichon, Anne-Sophie Denommé-Pichon, Hana Safraou, Hana Safraou, Ange-Line Bruel, Ange-Line Bruel, Antonio Vitobello, Antonio Vitobello, Aurore Garde, Sophie Nambot, Nicolas Bourgon, Caroline Racine, Arthur Sorlin, Arthur Sorlin, Sébastien Moutton, Nathalie Marle, Thierry Rousseau, Paul Sagot, Emmanuel Simon, Catherine Vincent-Delorme, Odile Boute, Cindy Colson, Florence Petit, Marine Legendre, Sophie Naudion, Caroline Rooryck, Clément Prouteau, Estelle Colin, Agnès Guichet, Alban Ziegler, Dominique Bonneau, Godelieve Morel, Mélanie Fradin, Alinoé Lavillaureix, Chloé Quelin, Laurent Pasquier, Sylvie Odent, Gabriella Vera, Alice Goldenberg, Anne-Marie Guerrot, Anne-Claire Brehin, Audrey Putoux, Jocelyne Attia, Carine Abel, Patricia Blanchet, Constance F. Wells, Caroline Deiller, Mathilde Nizon, Mathilde Nizon, Sandra Mercier, Sandra Mercier, Marie Vincent, Marie Vincent, Bertrand Isidor, Bertrand Isidor, Jeanne Amiel, Jeanne Amiel, Rodolphe Dard, Manon Godin, Nicolas Gruchy, Médéric Jeanne, Médéric Jeanne, Elise Schaeffer, Pierre-Yves Maillard, Frédérique Payet, Marie-Line Jacquemont, Christine Francannet, Sabine Sigaudy, Marine Bergot, Marine Bergot, Emilie Tisserant, Marie-Laure Ascencio, Christine Binquet, Yannis Duffourd, Yannis Duffourd, Christophe Philippe, Christophe Philippe, Laurence Faivre, Laurence Faivre, Christel Thauvin-Robinet, Christel Thauvin-Robinet, Christel Thauvin-Robinet

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