Výsledky vyhledávání - Mátyás, Gábor

Correspondence (letter to the editor): New Insights Autor Schoenhoff, Florian S., Matyas, Gabor, Carrel, Thierry

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Clinical sequencing: is WGS the better WES? Autor Meienberg, Janine, Bruggmann, Rémy, Oexle, Konrad, Matyas, Gabor

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Added Value of Clinical Sequencing: WGS-Based Profiling of Pharmacogenes Autor Caspar, Sylvan M., Schneider, Timo, Meienberg, Janine, Matyas, Gabor

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Vascular Ehlers–Danlos syndrome: can the beneficial effect of celiprolol be extrapolated to bisoprolol? Autor Gorosabel, Maria C, Dubacher, Nicolo, Meienberg, Janine, Matyas, Gabor

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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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Potential predictors of severe cardiovascular involvement in Marfan syndrome: the emphasized role of genotype–phenotype correlations in improving risk stratification—a literature r... Autor Stengl, Roland, Ágg, Bence, Pólos, Miklós, Mátyás, Gábor, Szabó, Gábor, Merkely, Béla, Radovits, Tamás, Szabolcs, Zoltán, Benke, Kálmán

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A pilot clinical trial with losartan in Myhre syndrome Autor Cappuccio, Gerarda, Caiazza, Martina, Roca, Alessandro, Melis, Daniela, Iuliano, Antonella, Matyas, Gabor, Rubino, Marta, Limongelli, Giuseppe, Brunetti‐Pierri, Nicola

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Need for speed in accurate whole-genome data analysis: GENALICE MAP challenges BWA/GATK more than PEMapper/PECaller and Isaac Autor Plüss, Michel, Kopps, Anna M., Keller, Irene, Meienberg, Janine, Caspar, Sylvan M., Dubacher, Nicolo, Bruggmann, Rémy, Vogel, Manfred, Matyas, Gabor

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Medical Treatment of Aortic Aneurysms in Marfan Syndrome and other Heritable Conditions Autor Jost, Christine H. Attenhofer, Greutmann, Matthias, Connolly, Heidi M., Weber, Roland, Rohrbach, Marianne, Oxenius, Angela, Kretschmar, Oliver, Luscher, Thomas F., Matyas, Gabor

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Glutathione S-transferase genotypes modify lung function decline in the general population: SAPALDIA cohort study Autor Imboden, Medea, Downs, Sara H, Senn, Oliver, Matyas, Gabor, Brändli, Otto, Russi, Erich W, Schindler, Christian, Ackermann-Liebrich, Ursula, Berger, Wolfgang, Probst-Hensch, Nicole M

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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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Optimising the mutation screening strategy in Marfan syndrome and identifying genotypes with more severe aortic involvement Autor Stengl, Roland, Bors, András, Ágg, Bence, Pólos, Miklós, Matyas, Gabor, Molnár, Mária Judit, Fekete, Bálint, Csabán, Dóra, Andrikovics, Hajnalka, Merkely, Béla, Radovits, Tamás, Szabolcs, Zoltán, Benke, Kálmán

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Mutations in CABP4, the Gene Encoding the Ca(2+)-Binding Protein 4, Cause Autosomal Recessive Night Blindness Autor Zeitz, Christina, Kloeckener-Gruissem, Barbara, Forster, Ursula, Kohl, Susanne, Magyar, István, Wissinger, Bernd, Mátyás, Gábor, Borruat, François-Xavier, Schorderet, Daniel F., Zrenner, Eberhart, Munier, Francis L., Berger, Wolfgang

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Hungarian Marfan family with large FBN1 deletion calls attention to copy number variation detection in the current NGS era Autor Benke, Kálmán, Ágg, Bence, Meienberg, Janine, Kopps, Anna M., Fattorini, Nathalie, Stengl, Roland, Daradics, Noémi, Pólos, Miklós, Bors, András, Radovits, Tamás, Merkely, Béla, De Backer, Julie, Szabolcs, Zoltán, Mátyás, Gábor

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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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