檢索結果 - Mátyás, Gábor

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

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

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Added Value of Clinical Sequencing: WGS-Based Profiling of Pharmacogenes 由 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? 由 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 由 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... 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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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