Výsledky vyhledávání - Rossier, Eva

Molecular cytogenetic characterization of two independent karyotypic anomalies in a patient with severe mental retardation and juvenile idiopathic arthritis Autor Leybrand, Sabine, Rossier, Eva, Barbi, Gotthold, Cooper, David N., Kehrer-Sawatzki, Hildegard

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Expanded spectrum of exon 33 and 34 mutations in SRCAP and follow-up in patients with Floating-Harbor syndrome Autor Seifert, Wenke, Meinecke, Peter, Krüger, Gabriele, Rossier, Eva, Heinritz, Wolfram, Wüsthof, Achim, Horn, Denise

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Menkes Disease with Discordant Phenotype in Female Monozygotic Twins Autor Burgemeister, Anna Lena, Zirn, Birgit, Oeffner, Frank, Kaler, Stephen G., Lemm, Gunther, Rossier, Eva, Büttel, Hans-Martin

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Characterization of a t(5;8)(q31;q21) translocation in a patient with mental retardation and congenital heart disease: implications for involvement of RUNX1T1 in human brain and he... Autor Zhang, Litu, Tümer, Zeynep, Møllgård, Kjeld, Barbi, Gotthold, Rossier, Eva, Bendsen, Eske, Møller, Rikke Steensbjerre, Ullmann, Reinhard, He, Jian, Papadopoulos, Nickolas, Tommerup, Niels, Larsen, Lars Allan

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De novo MECP2 duplication in two females with random X-inactivation and moderate mental retardation Autor Grasshoff, Ute, Bonin, Michael, Goehring, Ina, Ekici, Arif, Dufke, Andreas, Cremer, Kirsten, Wagner, Nicholas, Rossier, Eva, Jauch, Anna, Walter, Michael, Bauer, Claudia, Bauer, Peter, Horber, Karl, Beck-Woedl, Stefanie, Wieczorek, Dagmar

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Goltz–Gorlin (focal dermal hypoplasia) and the microphthalmia with linear skin defects (MLS) syndrome: no evidence of genetic overlap Autor Harmsen, May-Britt, Azzarello-Burri, Silvia, García González, M Mar, Gillessen-Kaesbach, Gabriele, Meinecke, Peter, Müller, Dietmar, Rauch, Anita, Rossier, Eva, Seemanova, Eva, Spaich, Christiane, Steiner, Bernhard, Wieczorek, Dagmar, Zenker, Martin, Kutsche, Kerstin

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Mutations causing Greenberg dysplasia but not Pelger anomaly uncouple enzymatic from structural functions of a nuclear membrane protein Autor Clayton, Peter, Fischer, Björn, Mann, Anuska, Mansour, Sahar, Rossier, Eva, Veen, Markus, Lang, Christine, Baasanjav, Sevjidmaa, Kieslich, Moritz, Brossuleit, Katja, Gravemann, Sophia, Schnipper, Nele, Karbasyian, Mohsen, Demuth, Ilja, Zwerger, Monika, Vaya, Amparo, Utermann, Gerd, Mundlos, Stefan, Stricker, Sigmar, Sperling, Karl, Hoffmann, Katrin

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Haploinsufficiency of ARID1B, a Member of the SWI/SNF-A Chromatin-Remodeling Complex, Is a Frequent Cause of Intellectual Disability Autor Hoyer, Juliane, Ekici, Arif B., Endele, Sabine, Popp, Bernt, Zweier, Christiane, Wiesener, Antje, Wohlleber, Eva, Dufke, Andreas, Rossier, Eva, Petsch, Corinna, Zweier, Markus, Göhring, Ina, Zink, Alexander M., Rappold, Gudrun, Schröck, Evelin, Wieczorek, Dagmar, Riess, Olaf, Engels, Hartmut, Rauch, Anita, Reis, André

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New insights into the imprinted MEG8-DMR in 14q32 and clinical and molecular description of novel patients with Temple syndrome Autor Beygo, Jasmin, Küchler, Alma, Gillessen-Kaesbach, Gabriele, Albrecht, Beate, Eckle, Jonas, Eggermann, Thomas, Gellhaus, Alexandra, Kanber, Deniz, Kordaß, Ulrike, Lüdecke, Hermann-Josef, Purmann, Sabine, Rossier, Eva, van de Nes, Johannes, van der Werf, Ilse M, Wenzel, Maren, Wieczorek, Dagmar, Horsthemke, Bernhard, Buiting, Karin

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Microdeletions in 9q33.3-q34.11 in five patients with intellectual disability, microcephaly, and seizures of incomplete penetrance: is STXBP1 not the only causative gene? Autor Ehret, Julia K., Engels, Hartmut, Cremer, Kirsten, Becker, Jessica, Zimmermann, Johannes P., Wohlleber, Eva, Grasshoff, Ute, Rossier, Eva, Bonin, Michael, Mangold, Elisabeth, Bevot, Andrea, Schön, Stefanie, Heilmann-Heimbach, Stefanie, Dennert, Nicola, Mathieu-Dramard, Michèle, Lacaze, Elodie, Plessis, Ghislaine, de Broca, Alain, Jedraszak, Guillaume, Röthlisberger, Benno, Miny, Peter, Filges, Isabel, Dufke, Andreas, Andrieux, Joris, Lee, Jennifer A., Zink, Alexander M.

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RAD21 Mutations Cause a Human Cohesinopathy Autor Deardorff, Matthew A., Wilde, Jonathan J., Albrecht, Melanie, Dickinson, Emma, Tennstedt, Stephanie, Braunholz, Diana, Mönnich, Maren, Yan, Yuqian, Xu, Weizhen, Gil-Rodríguez, María Concepcion, Clark, Dinah, Hakonarson, Hakon, Halbach, Sara, Michelis, Laura Daniela, Rampuria, Abhinav, Rossier, Eva, Spranger, Stephanie, Van Maldergem, Lionel, Lynch, Sally Ann, Gillessen-Kaesbach, Gabriele, Lüdecke, Hermann-Josef, Ramsay, Robert G., McKay, Michael J., Krantz, Ian D., Xu, Huiling, Horsfield, Julia A., Kaiser, Frank J.

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Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies Autor Acuna-Hidalgo, Rocio, Deriziotis, Pelagia, Steehouwer, Marloes, Gilissen, Christian, Graham, Sarah A., van Dam, Sipko, Hoover-Fong, Julie, Telegrafi, Aida B., Destree, Anne, Smigiel, Robert, Lambie, Lindsday A., Kayserili, Hülya, Altunoglu, Umut, Lapi, Elisabetta, Uzielli, Maria Luisa, Aracena, Mariana, Nur, Banu G., Mihci, Ercan, Moreira, Lilia M. A., Borges Ferreira, Viviane, Horovitz, Dafne D. G., da Rocha, Katia M., Jezela-Stanek, Aleksandra, Brooks, Alice S., Reutter, Heiko, Cohen, Julie S., Fatemi, Ali, Smitka, Martin, Grebe, Theresa A., Di Donato, Nataliya, Deshpande, Charu, Vandersteen, Anthony, Marques Lourenço, Charles, Dufke, Andreas, Rossier, Eva, Andre, Gwenaelle, Baumer, Alessandra, Spencer, Careni, McGaughran, Julie, Franke, Lude, Veltman, Joris A., De Vries, Bert B. A., Schinzel, Albert, Fisher, Simon E., Hoischen, Alexander, van Bon, Bregje W.

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