Výsledky vyhledávání - Kury, Sebastien

BAK1 gene variation and abdominal aortic aneurysms—results may have been prematurely overrated Autor Küry, Sébastien, Airaud, Fabrice, Piloquet, Philippe, Bézieau, Stéphane

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Clinical utility gene card for: acrodermatitis enteropathica Autor Küry, Sébastien, Kharfi, Monia, Schmitt, Sébastien, Bézieau, Stéphane

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Clinical utility gene card for: Biotinidase deficiency Autor Küry, Sébastien, Ramaekers, Vincent, Bézieau, Stéphane, Wolf, Barry

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Clinical utility gene card for: Biotinidase deficiency—update 2015 Autor Küry, Sébastien, Ramaekers, Vincent, Bézieau, Stéphane, Wolf, Barry

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Neurodevelopmental Disorders (NDD) Caused by Genomic Alterations of the Ubiquitin-Proteasome System (UPS): the Possible Contribution of Immune Dysregulation to Disease Pathogenesis Autor Ebstein, Frédéric, Küry, Sébastien, Papendorf, Jonas Johannes, Krüger, Elke

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Clinical utility gene card for: acrodermatitis enteropathica – update 2015 Autor Küry, Sébastien, Kharfi, Monia, Blouin, Eric, Schmitt, Sébastien, Bézieau, Stéphane

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A de novo germline MLH1 mutation in a Lynch syndrome patient with discordant immunohistochemical and molecular biology test results Autor Airaud, Fabrice, Küry, Sébastien, Valo, Isabelle, Maury, Ingrid, Bonneau, Dominique, Ingster, Olivier, Bezieau, Stéphane

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Three independent mutations in the TSC2 gene in a family with tuberous sclerosis Autor Le Caignec, Cédric, Kwiatkowski, David J, Küry, Sébastien, Hardouin, Jean-Benoit, Melki, Judith, David, Albert

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Reappraisal of the so-called ‘villous tumours’ of the rectosigmoid, based on histological, immunohistochemical and genotypic features Autor Droy-Dupré, Laure, Küry, Sébastien, Coron, Emmanuel, Bézieau, Stéphane, Laboisse, Christian L, Mosnier, Jean-François

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CUGC for hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis (POIKTMP) Autor Küry, Sébastien, Mercier, Sandra, Shaboodien, Gasnat, Besnard, Thomas, Barbarot, Sébastien, Khumalo, Nonhlanhla P, Mayosi, Bongani M, Bézieau, Stéphane

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Characterization of zinc amino acid complexes for zinc delivery in vitro using Caco-2 cells and enterocytes from hiPSC Autor Sauer, Ann Katrin, Pfaender, Stefanie, Hagmeyer, Simone, Tarana, Laura, Mattes, Ann-Kathrin, Briel, Franziska, Küry, Sébastien, Boeckers, Tobias M., Grabrucker, Andreas M.

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Evaluation of the colorectal cancer risk conferred by rare UNC5C alleles Autor Küry, Sébastien, Garrec, Céline, Airaud, Fabrice, Breheret, Flora, Guibert, Virginie, Frenard, Cécile, Jiao, Shuo, Bonneau, Dominique, Berthet, Pascaline, Bossard, Céline, Ingster, Olivier, Cauchin, Estelle, Bezieau, Stéphane

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Low-penetrance alleles predisposing to sporadic colorectal cancers: a French case-controlled genetic association study Autor Küry, Sébastien, Buecher, Bruno, Robiou-du-Pont, Sébastien, Scoul, Catherine, Colman, Hélène, Le Neel, Tanguy, Le Houérou, Claire, Faroux, Roger, Ollivry, Jean, Lafraise, Bernard, Chupin, Louis-Dominique, Sébille, Véronique, Bézieau, Stéphane

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The intellectual disability‐associated CAMK2G p.Arg292Pro mutation acts as a pathogenic gain‐of‐function Autor Proietti Onori, Martina, Koopal, Balwina, Everman, David B., Worthington, Jessica D., Jones, Julie R., Ploeg, Melissa A., Mientjes, Edwin, van Bon, Bregje W., Kleefstra, Tjitske, Schulman, Howard, Kushner, Steven A., Küry, Sébastien, Elgersma, Ype, van Woerden, Geeske M.

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A dominant vimentin variant causes a rare syndrome with premature aging Autor Cogné, Benjamin, Bouameur, Jamal-Eddine, Hayot, Gaëlle, Latypova, Xenia, Pattabiraman, Sundararaghavan, Caillaud, Amandine, Si-Tayeb, Karim, Besnard, Thomas, Küry, Sébastien, Chariau, Caroline, Gaignerie, Anne, David, Laurent, Bordure, Philippe, Kaganovich, Daniel, Bézieau, Stéphane, Golzio, Christelle, Magin, Thomas M., Isidor, Bertrand

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Two novel variants in CNTNAP1 in two siblings presenting with congenital hypotonia and hypomyelinating neuropathy Autor Nizon, Mathilde, Cogne, Benjamin, Vallat, Jean-Michel, Joubert, Madeleine, Liet, Jean-Michel, Simon, Laure, Vincent, Marie, Küry, Sébastien, Boisseau, Pierre, Schmitt, Sébastien, Mercier, Sandra, Bénéteau, Claire, Larrose, Catherine, Coste, Marianne, Latypova, Xénia, Péréon, Yann, Mussini, Jean-Marie, Bézieau, Stéphane, Isidor, Bertrand

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Identification of shared genetic variants between schizophrenia and lung cancer Autor Zuber, Verena, Jönsson, Erik G., Frei, Oleksandr, Witoelar, Aree, Thompson, Wesley K., Schork, Andrew J., Bettella, Francesco, Wang, Yunpeng, Djurovic, Srdjan, Smeland, Olav B., Dieset, Ingrid, Fanous, Ayman H., Desikan, Rahul S., Küry, Sébastien, Bézieau, Stéphane, Dale, Anders M., Mills, Ian G., Andreassen, Ole A.

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Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP Autor Van Dijck, Anke, Vulto-van Silfhout, Anneke T., Cappuyns, Elisa, van der Werf, Ilse M., Mancini, Grazia M., Tzschach, Andreas, Bernier, Raphael, Gozes, Illana, Eichler, Evan E., Romano, Corrado, Lindstrand, Anna, Nordgren, Ann, Consortium, ADNP, Kvarnung, Malin, Kleefstra, Tjitske, de Vries, Bert B.A., Küry, Sébastien, Rosenfeld, Jill A., Meuwissen, Marije E., Vandeweyer, Geert, Kooy, R. Frank

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Mutations in FAM111B Cause Hereditary Fibrosing Poikiloderma with Tendon Contracture, Myopathy, and Pulmonary Fibrosis Autor Mercier, Sandra, Küry, Sébastien, Shaboodien, Gasnat, Houniet, Darren T., Khumalo, Nonhlanhla P., Bou-Hanna, Chantal, Bodak, Nathalie, Cormier-Daire, Valérie, David, Albert, Faivre, Laurence, Figarella-Branger, Dominique, Gherardi, Romain K., Glen, Elise, Hamel, Antoine, Laboisse, Christian, Le Caignec, Cédric, Lindenbaum, Pierre, Magot, Armelle, Munnich, Arnold, Mussini, Jean-Marie, Pillay, Komala, Rahman, Thahira, Redon, Richard, Salort-Campana, Emmanuelle, Santibanez-Koref, Mauro, Thauvin, Christel, Barbarot, Sébastien, Keavney, Bernard, Bézieau, Stéphane, Mayosi, Bongani M.

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De Novo Truncating Variants in SON Cause Intellectual Disability, Congenital Malformations, and Failure to Thrive Autor Tokita, Mari J., Braxton, Alicia A., Shao, Yunru, Lewis, Andrea M., Vincent, Marie, Küry, Sébastien, Besnard, Thomas, Isidor, Bertrand, Latypova, Xénia, Bézieau, Stéphane, Liu, Pengfei, Motter, Connie S., Melver, Catherine Ward, Robin, Nathaniel H., Infante, Elena M., McGuire, Marianne, El-Gharbawy, Areeg, Littlejohn, Rebecca O., McLean, Scott D., Bi, Weimin, Bacino, Carlos A., Lalani, Seema R., Scott, Daryl A., Eng, Christine M., Yang, Yaping, Schaaf, Christian P., Walkiewicz, Magdalena A.

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