Search Results - "Pfennig, Gwendoline"

Gestational choriocarcinoma associated with a germline TP53 mutation by Brehin, Anne-Claire, Patrier-Sallebert, Sophie, Bougeard, Gaëlle, Side-Pfennig, Gwendoline, Llamas Gutierrez, Francisco, Lamy, Aude, Colasse, Elodie, Kandel-Aznar, Christine, Delnatte, Capucine, Vuillemin, Eric, Sadot-Lebouvier, Sophie, Odent, Sylvie, Sabourin, Jean-Christophe, Golfier, François, Frebourg, Thierry

“…Choriocarcinoma is a highly malignant neoplasm resulting from the malignant transformation of proliferating trophoblastic cells and the molecular mechanisms…”
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Molecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasia by Allali, Slimane, Le Goff, Carine, Pressac-Diebold, Isabelle, Pfennig, Gwendoline, Mahaut, Clémentine, Dagoneau, Nathalie, Alanay, Yasemin, Brady, Angela F, Crow, Yanick J, Devriendt, Koen, Drouin-Garraud, Valérie, Flori, Elisabeth, Geneviève, David, Hennekam, Raoul C, Hurst, Jane, Krakow, Deborah, Le Merrer, Martine, Lichtenbelt, Klaske D, Lynch, Sally A, Lyonnet, Stanislas, MacDermot, Kay, Mansour, Sahar, Megarbané, André, Santos, Heloisa G, Splitt, Miranda, Superti-Furga, Andrea, Unger, Sheila, Williams, Denise, Munnich, Arnold, Cormier-Daire, Valérie

“…Geleophysic dysplasia (GD, OMIM 231050) is an autosomal recessive disorder characterised by short stature, small hands and feet, stiff joints, and thick skin…”
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