Risultati della ricerca - Cindy Colson

Expanded phenotypic spectrum of UDP‐glucose‐6‐dehydrogenase recessive neurodevelopmental disorder: Two novel descriptions with or without epileptic encephalopathy di Pauline Plante‐Bordeneuve, Simon Boussion, Mélanie Rama, Perrine Brunelle, Caroline Thuillier, Clémence Vanlerberghe, Roseline Caumes, Cindy Colson, Emilie Ait‐Yahya, Jamal Ghoumid, Thomas Smol

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The Phenotypic and Genotypic Spectrum of BRPF1‐Related Disorder: 29 New Patients and Literature Review di Cindy Colson, Marine Tessarech, Elise Boucher‐Brischoux, Odile Boute‐Benejean, Catherine Vincent‐Delorme, Clémence Vanlerberghe, Simon Boussion, Justine Le Cunff, Bénédicte Duban‐Bedu, Laurence Faivre, Christel Thauvin, Christophe Philippe, Ange‐Line Bruel, Frédéric Tran Mau‐Them, Clara Houdayer, Gaetan Lesca, Audrey Putoux, Jonathan Lévy, Olivier Patat, Marlène Rio, Jamal Ghoumid, Thomas Smol

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Prenatal exome sequencing, a powerful tool for improving the description of prenatal features associated with genetic disorders di Christel Thauvin‐Robinet, Aurore Garde, Julian Delanne, Caroline Racine, Thierry Rousseau, Emmanuel Simon, Michel François, Sebastien Moutton, Odent Sylvie, Chloe Quelin, Godelieve Morel, Alice Goldenberg, Anne‐Marie Guerrot, Gabriella Vera, Nicolas Gruchy, Cindy Colson, Odile Boute, Carine Abel, Audrey Putoux, Jeanne Amiel, Agnes Guichet, Bertrand Isidor, Caroline Deiller, Constance Wells, Caroline Rooryck, Marine Legendre, Christine Francannet, Rodolphe Dard, Sabine Sigaudy, Ange‐Line Bruel, Hana Safraou, Anne‐Sophie Denommé‐Pichon, Sophie Nambot, Marie‐Laure Humbert Asensio, Christine Binquet, Yannis Duffourd, Antonio Vitobello, Christophe Philippe, Laurence Faivre, Frédéric Tran‐Mau‐Them, Nicolas Bourgon

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LONP1 Variants Are Associated With Clinically Diverse Phenotypes di Randee E. Young, Lu Qiao, Rebecca Hernan, David A. Sweetser, Jessica L. Waxler, Daryl A. Scott, Tiana M. Scott, Seema R. Lalani, Mahshid S. Azamian, Jill A. Rosenfeld, Bret Bostwick, Lindsay C. Burrage, Lance H. Rodan, Bianca E. Russell, Marina Dutra‐Clarke, Michael Kruer, Somayeh Bakhtiarim, Hossein Darvish, David J. Amor, Shamima Rahman, Karen Stals, Lisa Bradley, Susan Byrne, Leandra K. Tolusso, Beatrix Wong, Laura Benedict, Kimberly Wallis, Kestutis Micke, Cindy Colson, Thomas Smol, Sabrina V. Southwick, Kristen A. Miller, Michelle L. Kush, Odelia Chorin, Annick Rothschild, Wei Wang, Yufeng Shen, Wendy K. Chung

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