Výsledky vyhledávání - Steinmann, Beat

Clinical utility gene card for: Ehlers–Danlos syndrome types I–VII Autor Mayer, Karin, Kennerknecht, Ingo, Steinmann, Beat

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Clinical utility gene card for: Ehlers–Danlos syndrome types I–VII and variants - update 2012 Autor Mayer, Karin, Kennerknecht, Ingo, Steinmann, Beat

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Ehlers-Danlos Syndrome Type VI in a 17-Year-Old Iranian Boy with Severe Muscular Weakness – A Diagnostic Challenge? Autor Kariminejad, Ariana, Bozorgmehr, Bita, Khatami, Alireza, Kariminejad, Mohamad-Hasan, Giunta, Cecilia, Steinmann, Beat

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Variant filtering, digenic variants, and other challenges in clinical sequencing: a lesson from fibrillinopathies Autor Najafi, Arash, Caspar, Sylvan M., Meienberg, Janine, Rohrbach, Marianne, Steinmann, Beat, Matyas, Gabor

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A summary of molecular genetic findings in fructose-1,6-bisphosphatase deficiency with a focus on a common long-range deletion and the role of MLPA analysis Autor Santer, René, du Moulin, Marcel, Shahinyan, Tatevik, Vater, Inga, Maier, Esther, Muntau, Ania C., Steinmann, Beat

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SUMF1 mutations affecting stability and activity of formylglycine generating enzyme predict clinical outcome in multiple sulfatase deficiency Autor Schlotawa, Lars, Ennemann, Eva Charlotte, Radhakrishnan, Karthikeyan, Schmidt, Bernhard, Chakrapani, Anupam, Christen, Hans-Jürgen, Moser, Hugo, Steinmann, Beat, Dierks, Thomas, Gärtner, Jutta

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Promotion of vesicular zinc efflux by ZIP13 and its implications for spondylocheiro dysplastic Ehlers–Danlos syndrome Autor Jeong, Jeeyon, Walker, Joel M., Wang, Fudi, Park, J. Genevieve, Palmer, Amy E., Giunta, Cecilia, Rohrbach, Marianne, Steinmann, Beat, Eide, David J.

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Spondylocheiro Dysplastic Form of the Ehlers-Danlos Syndrome—An Autosomal-Recessive Entity Caused by Mutations in the Zinc Transporter Gene SLC39A13 Autor Giunta, Cecilia, Elçioglu, Nursel H., Albrecht, Beate, Eich, Georg, Chambaz, Céline, Janecke, Andreas R., Yeowell, Heather, Weis, MaryAnn, Eyre, David R., Kraenzlin, Marius, Steinmann, Beat

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New insights into the performance of human whole-exome capture platforms Autor Meienberg, Janine, Zerjavic, Katja, Keller, Irene, Okoniewski, Michal, Patrignani, Andrea, Ludin, Katja, Xu, Zhenyu, Steinmann, Beat, Carrel, Thierry, Röthlisberger, Benno, Schlapbach, Ralph, Bruggmann, Rémy, Matyas, Gabor

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Marfan syndrome: No evidence for heterogeneity in different populations, and more precise mapping of the gene Autor Kainulainen, Katariina, Steinmann, Beat, Collins, Francis, Dietz, Harry C., Francomano, Clair A., Child, Anne, Kilpatrick, Michael W., Brock, David J. H., Keston, Marion, Pyeritz, Reed E., Peltonen, Leena

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Loss of Dermatan-4-Sulfotransferase 1 Function Results in Adducted Thumb-Clubfoot Syndrome Autor Dündar, Munis, Müller, Thomas, Zhang, Qi, Pan, Jing, Steinmann, Beat, Vodopiutz, Julia, Gruber, Robert, Sonoda, Tohru, Krabichler, Birgit, Utermann, Gerd, Baenziger, Jacques U., Zhang, Lijuan, Janecke, Andreas R.

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Hemizygous deletion of COL3A1, COL5A2, and MSTN causes a complex phenotype with aortic dissection: a lesson for and from true haploinsufficiency Autor Meienberg, Janine, Rohrbach, Marianne, Neuenschwander, Stefan, Spanaus, Katharina, Giunta, Cecilia, Alonso, Sira, Arnold, Eliane, Henggeler, Caroline, Regenass, Stephan, Patrignani, Andrea, Azzarello-Burri, Silvia, Steiner, Bernhard, Nygren, Anders OH, Carrel, Thierry, Steinmann, Beat, Mátyás, Gábor

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Consistent linkage of dominantly inherited osteogenesis imperfecta to the type I collagen loci: COL1A1 and COL1A2 Autor Sykes, Bryan, Ogilvie, Donald, Wordsworth, Paul, Wallis, Gillian, Mathew, Chris, Beighton, Peter, Nicholls, Alan, Pope, F. Michael, Thompson, Elizabeth, Tsipouras, Petros, Schwartz, Robin, Jensson, Olafur, Arnason, Alfred, Børresen, Anne-Lise, Heiberg, Arvid, Frey, Daniel, Steinmann, Beat

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Abnormal Morphology of Fibrillin Microfibrils in Fibroblast Cultures from Patients with Neonatal Marfan Syndrome Autor Godfrey, Maurice, Raghunath, Michael, Cisler, Jason, Bevins, Charles L., DePaepe, Anne, Di Rocco, Maja, Gregoritch, Jane, Imaizumi, Kiyoshi, Kaplan, Paige, Kuroki, Yoshikazu, Silberbach, Michael, Superti-Furga, Andrea, Van Thienen, Marie-Noëlle, Vetter, Ulrich, Steinmann, Beat

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ZNF469 frequently mutated in the brittle cornea syndrome (BCS) is a single exon gene possibly regulating the expression of several extracellular matrix components Autor Rohrbach, Marianne, Spencer, Helen L., Porter, Louise F., Burkitt-Wright, Emma M.M., Bürer, Céline, Janecke, Andreas, Bakshi, Madhura, Sillence, David, Al-Hussain, Hailah, Baumgartner, Matthias, Steinmann, Beat, Black, Graeme C.M., Manson, Forbes D.C., Giunta, Cecilia

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The Phenotype of the Musculocontractural Type of Ehlers-Danlos Syndrome due to CHST14 Mutations Autor Janecke, Andreas R., Li, Ben, Boehm, Manfred, Krabichler, Birgit, Rohrbach, Marianne, Müller, Thomas, Fuchs, Irene, Golas, Gretchen, Katagiri, Yasuhiro, Ziegler, Shira G., Gahl, William A., Wilnai, Yael, Zoppi, Nicoletta, Geller, Herbert M., Giunta, Cecilia, Slavotinek, Anne, Steinmann, Beat

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Lack of the Mitochondrial Protein Acylglycerol Kinase Causes Sengers Syndrome Autor Mayr, Johannes A., Haack, Tobias B., Graf, Elisabeth, Zimmermann, Franz A., Wieland, Thomas, Haberberger, Birgit, Superti-Furga, Andrea, Kirschner, Janbernd, Steinmann, Beat, Baumgartner, Matthias R., Moroni, Isabella, Lamantea, Eleonora, Zeviani, Massimo, Rodenburg, Richard J., Smeitink, Jan, Strom, Tim M., Meitinger, Thomas, Sperl, Wolfgang, Prokisch, Holger

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Mutations in FKBP14 Cause a Variant of Ehlers-Danlos Syndrome with Progressive Kyphoscoliosis, Myopathy, and Hearing Loss Autor Baumann, Matthias, Giunta, Cecilia, Krabichler, Birgit, Rüschendorf, Franz, Zoppi, Nicoletta, Colombi, Marina, Bittner, Reginald E., Quijano-Roy, Susana, Muntoni, Francesco, Cirak, Sebahattin, Schreiber, Gudrun, Zou, Yaqun, Hu, Ying, Romero, Norma Beatriz, Carlier, Robert Yves, Amberger, Albert, Deutschmann, Andrea, Straub, Volker, Rohrbach, Marianne, Steinmann, Beat, Rostásy, Kevin, Karall, Daniela, Bönnemann, Carsten G., Zschocke, Johannes, Fauth, Christine

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Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin Autor Hennies, Hans Christian, Kornak, Uwe, Zhang, Haikuo, Egerer, Johannes, Zhang, Xin, Seifert, Wenke, Kühnisch, Jirko, Budde, Birgit, Nätebus, Marc, Brancati, Francesco, Wilcox, William R., Müller, Dietmar, Kaplan, Paige B., Rajab, Anna, Zampino, Giuseppe, Fodale, Valentina, Dallapiccola, Bruno, Newman, William, Metcalfe, Kay, Clayton-Smith, Jill, Tassabehji, May, Steinmann, Beat, Barr, Francis A., Nürnberg, Peter, Wieacker, Peter, Mundlos, Stefan

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Generalized Arterial Calcification of Infancy and Pseudoxanthoma Elasticum Can Be Caused by Mutations in Either ENPP1 or ABCC6 Autor Nitschke, Yvonne, Baujat, Geneviève, Botschen, Ulrike, Wittkampf, Tanja, du Moulin, Marcel, Stella, Jacqueline, Le Merrer, Martine, Guest, Geneviève, Lambot, Karen, Tazarourte-Pinturier, Marie-Frederique, Chassaing, Nicolas, Roche, Olivier, Feenstra, Ilse, Loechner, Karen, Deshpande, Charu, Garber, Samuel J., Chikarmane, Rashmi, Steinmann, Beat, Shahinyan, Tatevik, Martorell, Loreto, Davies, Justin, Smith, Wendy E., Kahler, Stephen G., McCulloch, Mignon, Wraige, Elizabeth, Loidi, Lourdes, Höhne, Wolfgang, Martin, Ludovic, Hadj-Rabia, Smaïl, Terkeltaub, Robert, Rutsch, Frank

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