Хайлтын үр дүнгүүд - Mátyás, Gábor

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

Бүрэн текст авах Бүрэн текст авах Бүрэн текст авах

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

Бүрэн текст авах Бүрэн текст авах Бүрэн текст авах

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

Бүрэн текст авах Бүрэн текст авах Бүрэн текст авах

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

Бүрэн текст авах Бүрэн текст авах Бүрэн текст авах

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

Бүрэн текст авах Бүрэн текст авах Бүрэн текст авах

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

Бүрэн текст авах Бүрэн текст авах Бүрэн текст авах

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

Бүрэн текст авах Бүрэн текст авах Бүрэн текст авах

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

Бүрэн текст авах Бүрэн текст авах Бүрэн текст авах

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

Бүрэн текст авах Бүрэн текст авах Бүрэн текст авах

Glutathione S-transferase genotypes modify lung function decline in the general population: SAPALDIA cohort study -н 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

Бүрэн текст авах Бүрэн текст авах Бүрэн текст авах

New insights into the performance of human whole-exome capture platforms -н 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

Бүрэн текст авах Бүрэн текст авах Бүрэн текст авах

Optimising the mutation screening strategy in Marfan syndrome and identifying genotypes with more severe aortic involvement -н 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

Бүрэн текст авах Бүрэн текст авах Бүрэн текст авах

Mutations in CABP4, the Gene Encoding the Ca(2+)-Binding Protein 4, Cause Autosomal Recessive Night Blindness -н 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

Бүрэн текст авах Бүрэн текст авах

Hungarian Marfan family with large FBN1 deletion calls attention to copy number variation detection in the current NGS era -н 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

Бүрэн текст авах Бүрэн текст авах Бүрэн текст авах

Hemizygous deletion of COL3A1, COL5A2, and MSTN causes a complex phenotype with aortic dissection: a lesson for and from true haploinsufficiency -н 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

Бүрэн текст авах Бүрэн текст авах Бүрэн текст авах