Zobrazeno 1 - 10
of 82
pro vyhledávání: '"Stolte‐Dijkstra, Irene"'
Autor:
Vansenne, Fleur, Fock, Johanna M., Stolte-Dijkstra, Irene, Meiners, Linda C., van den Boogaard, Marie-Jose H., Jaeger, Bregje, Boven, Ludolf, Vos, Yvonne J., Sinke, Richard J., Verbeek, Dineke S.
Publikováno v:
In European Journal of Paediatric Neurology November 2022 41:91-98
Autor:
Meerschaut, Ilse, De Coninck, Shana, Steyaert, Wouter, Barnicoat, Angela, Bayat, Allan, Benedicenti, Francesco, Berland, Siren, Blair, Edward M., Breckpot, Jeroen, de Burca, Anna, Destrée, Anne, García-Miñaúr, Sixto, Green, Andrew J., Hanna, Bernadette C., Keymolen, Kathelijn, Koopmans, Marije, Lederer, Damien, Lees, Melissa, Longman, Cheryl, Lynch, Sally Ann, Male, Alison M., McKenzie, Fiona, Migeotte, Isabelle, Mihci, Ercan, Nur, Banu, Petit, Florence, Piard, Juliette, Plasschaert, Frank S., Rauch, Anita, Ribaï, Pascale, Pacheco, Iratxe Salcedo, Stanzial, Franco, Stolte-Dijkstra, Irene, Valenzuela, Irene, Varghese, Vinod, Vasudevan, Pradeep C., Wakeling, Emma, Wallgren-Pettersson, Carina, Coucke, Paul, De Paepe, Anne, De Wolf, Daniël, Symoens, Sofie, Callewaert, Bert
Publikováno v:
In Genetics in Medicine January 2020 22(1):124-131
Autor:
Hernandez-Miranda, Luis Rodrigo, Ibrahim, Daniel M., Ruffault, Pierre-Louis, Larrosa, Madeleine, Balueva, Kira, Müller, Thomas, de Weerd, Willemien, Stolte-Dijkstra, Irene, Hostra, Robert M. W., Brunet, Jean-François, Fortin, Gilles, Mundlos, Stefan, Birchmeier, Carmen
Publikováno v:
Proceedings of the National Academy of Sciences of the United States of America, 2018 Dec . 115(51), 13021-13026.
Externí odkaz:
https://www.jstor.org/stable/26574214
Autor:
Le Goff, Carine, Mahaut, Clémentine, Wang, Lauren W., Allali, Slimane, Abhyankar, Avinash, Jensen, Sacha, Zylberberg, Louise, Collod-Beroud, Gwenaelle, Bonnet, Damien, Alanay, Yasemin, Brady, Angela F., Cordier, Marie-Pierre, Devriendt, Koen, Genevieve, David, Kiper, Pelin Özlem Simsek, Kitoh, Hiroshi, Krakow, Deborah, Lynch, Sally Ann, Le Merrer, Martine, Mégarbane, André, Mortier, Geert, Odent, Sylvie, Polak, Michel, Rohrbach, Marianne, Sillence, David, Stolte-Dijkstra, Irene, Superti-Furga, Andrea, Rimoin, David L., Topouchian, Vicken, Unger, Sheila, Zabel, Bernhard, Bole-Feysot, Christine, Nitschke, Patrick, Handford, Penny, Casanova, Jean-Laurent, Boileau, Catherine, Apte, Suneel S., Munnich, Arnold, Cormier-Daire, Valérie
Publikováno v:
In The American Journal of Human Genetics 15 July 2011 89(1):7-14
Autor:
Dubail, Johanne, Huber, Céline, Chantepie, Sandrine, Sonntag, Stephan, Tüysüz, Beyhan, Mihci, Ercan, Gordon, Christopher T., Steichen-Gersdorf, Elisabeth, Amiel, Jeanne, Nur, Banu, Stolte-Dijkstra, Irene, van Eerde, Albertien M., van Gassen, Koen L., Breugem, Corstiaan C., Stegmann, Alexander, Lekszas, Caroline, Maroofian, Reza, Karimiani, Ehsan Ghayoor, Bruneel, Arnaud, Seta, Nathalie, Munnich, Arnold, Papy-Garcia, Dulce, De La Dure-Molla, Muriel, Cormier-Daire, Valérie
Publikováno v:
Nature Communications, Vol 9, Iss 1, Pp 1-15 (2018)
Nature communications, 9(1):3087. Nature Publishing Group
Nature Communications, 9(1). Nature Publishing Group
Nature Communications
Nature Communications, Nature Publishing Group, 2018, 9 (1), pp.3087. ⟨10.1038/s41467-018-05191-8⟩
Nature Communications, 2018, 9 (1), pp.3087. ⟨10.1038/s41467-018-05191-8⟩
Nature Communications, 9:3087. Nature Publishing Group
Nature communications, 9(1):3087. Nature Publishing Group
Nature Communications, 9(1). Nature Publishing Group
Nature Communications
Nature Communications, Nature Publishing Group, 2018, 9 (1), pp.3087. ⟨10.1038/s41467-018-05191-8⟩
Nature Communications, 2018, 9 (1), pp.3087. ⟨10.1038/s41467-018-05191-8⟩
Nature Communications, 9:3087. Nature Publishing Group
Skeletal dysplasia with multiple dislocations are severe disorders characterized by dislocations of large joints and short stature. The majority of them have been linked to pathogenic variants in genes encoding glycosyltransferases, sulfotransferases
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::4985cb5fe942964fc78b2d8c642bed35
http://link.springer.com/article/10.1038/s41467-018-05191-8
http://link.springer.com/article/10.1038/s41467-018-05191-8
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Autor:
Fischer-Zirnsak, Björn, Escande-Beillard, Nathalie, Ganesh, Jaya, Tan, Yu Xuan, Al Bughaili, Mohammed, Lin, Angela E., Sahai, Inderneel, Bahena, Paulina, Reichert, Sara L., Loh, Abigail, Wright, Graham D., Liu, Jaron, Rahikkala, Elisa, Pivnick, Eniko K., Choudhri, Asim F., Krüger, Ulrike, Zemojtel, Tomasz, van Ravenswaaij-Arts, Conny, Mostafavi, Roya, Stolte-Dijkstra, Irene, Symoens, Sofie, Pajunen, Leila, Al-Gazali, Lihadh, Meierhofer, David, Robinson, Peter N., Mundlos, Stefan, Villarroel, Camilo E., Byers, Peter, Masri, Amira, Robertson, Stephen P., Schwarze, Ulrike, Callewaert, Bert, Reversade, Bruno, Kornak, Uwe
Publikováno v:
In The American Journal of Human Genetics 3 September 2015 97(3):483-492
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Autor:
Michot, Caroline, Le Goff, Carine, Mahaut, Clementine, Afenjar, Alexandra, Brooks, Alice S., Campeau, Philippe M., Destree, Anne, Di Rocco, Maja, Donnai, Dian, Hennekam, Raoul, Heron, Delphine, Jacquemont, Sebastien, Kannu, Peter, Lin, Angela E., Manouvrier-Hanu, Sylvie, Mansour, Sahar, Marlin, Sandrine, McGowan, Ruth, Murphy, Helen, Raas-Rothschild, Annick, Rio, Marlene, Simon, Marleen, Stolte-Dijkstra, Irene, Stone, James R., Sznajer, Yves, Tolmie, John, Touraine, Renaud, van den Ende, Jenneke, van der Aa, Nathalie, van Essen, Ton, Verloes, Alain, Munnich, Arnold, Cormier-Daire, Valerie
Publikováno v:
European journal of human genetics, 22(11). Nature Publishing Group
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=narcis______::84266425f42511aed2f52152aab459c8
https://pure.amc.nl/en/publications/myhre-and-laps-syndromes-clinical-and-molecular-review-of-32-patients-vol-22-pg-1272-2014(04b86230-922d-45b9-87dd-45de3b588271).html
https://pure.amc.nl/en/publications/myhre-and-laps-syndromes-clinical-and-molecular-review-of-32-patients-vol-22-pg-1272-2014(04b86230-922d-45b9-87dd-45de3b588271).html
Autor:
Bredrup, Cecilie, Saunier, Sophie, Oud, Machteld M., Fiskerstrand, Torunn, Hoischen, Alexander, Brackman, Damien, Leh, Sabine M., Midtbø, Marit, Filhol, Emilie, Bole-Feysot, Christine, Nitschké, Patrick, Gilissen, Christian, Haugen, Olav H., Sanders, Jan-Stephan F., Stolte-Dijkstra, Irene, Mans, Dorus A., Steenbergen, Eric J., Hamel, Ben C.J., Matignon, Marie, Pfundt, Rolph, Jeanpierre, Cécile, Boman, Helge, Rødahl, Eyvind, Veltman, Joris A., Knappskog, Per M., Knoers, Nine V.A.M., Roepman, Ronald, Arts, Heleen H.
Publikováno v:
In The American Journal of Human Genetics 11 November 2011 89(5):634-643