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	1.	More Genes for Thoracic Aortic Aneurysms and Dissections. [electronic resource] by Caspar, Sylvan M Dubacher, Nicolo Matyas, Gabor Producer: 20191111 In: Journal of the American College of Cardiology vol. 73 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2.	Re: Management of patients with aortic dissection. New insights. [electronic resource] by Schoenhoff, Florian S Matyas, Gabor Carrel, Thierry Producer: 20090923 In: Deutsches Arzteblatt international vol. 106 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3.	Clinical sequencing: is WGS the better WES? [electronic resource] by Meienberg, Janine Bruggmann, Rémy Oexle, Konrad Matyas, Gabor Producer: 20160706 In: Human genetics vol. 135 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4.	De novo mutation of the latency-associated peptide domain of TGFB3 in a patient with overgrowth and Loeys-Dietz syndrome features. [electronic resource] by Matyas, Gabor Naef, Paulina Tollens, Martin Oexle, Konrad Producer: 20150331 In: American journal of medical genetics. Part A vol. 164A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5.	Vascular Ehlers-Danlos syndrome: can the beneficial effect of celiprolol be extrapolated to bisoprolol? [electronic resource] by Gorosabel, Maria C Dubacher, Nicolo Meienberg, Janine Matyas, Gabor Producer: 20201201 In: European heart journal. Cardiovascular pharmacotherapy vol. 6 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	6.	Added Value of Clinical Sequencing: WGS-Based Profiling of Pharmacogenes. [electronic resource] by Caspar, Sylvan M Schneider, Timo Meienberg, Janine Matyas, Gabor Producer: 20201216 In: International journal of molecular sciences vol. 21 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	7.	Birt-Hogg-Dubé syndrome: novel FLCN frameshift deletion in daughter and father with renal cell carcinomas. [electronic resource] by Näf, Ernst Laubscher, Dominik Hopfer, Helmut Streit, Markus Matyas, Gabor Producer: 20161005 In: Familial cancer vol. 15 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	8.	Polar body biopsy for Curschmann-Steinert disease and successful pregnancy following embryo vitrification. [electronic resource] by Macas, Ervin Mátyás, Gábor Reuge, Philippe Berger, Wolfgang Imthurn, Bruno Producer: 20090818 In: Reproductive biomedicine online vol. 18 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	9.	Quantification of single nucleotide polymorphisms: a novel method that combines primer extension assay and capillary electrophoresis. [electronic resource] by Mátyás, Gábor Giunta, Cecilia Steinmann, Beat Hossle, Johann Peter Hellwig, Robert Producer: 20020212 In: Human mutation vol. 19 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	10.	Cardiovascular surgery in Marfan syndrome: implications of new molecular concepts in thoracic aortic disease. [electronic resource] by Schoenhoff, Florian S Cameron, Duke E Matyas, Gabor Carrel, Thierry P Producer: 20120117 In: Future cardiology vol. 7 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	11.	A bioinformatics framework for genotype-phenotype correlation in humans with Marfan syndrome caused by FBN1 gene mutations. [electronic resource] by Baumgartner, Christian Mátyás, Gábor Steinmann, Beat Eberle, Martin Stein, Jörg I Baumgartner, Daniela Producer: 20060502 In: Journal of biomedical informatics vol. 39 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	12.	Evaluation and application of denaturing HPLC for mutation detection in Marfan syndrome: Identification of 20 novel mutations and two novel polymorphisms in the FBN1 gene. [electronic resource] by Mátyás, Gábor De Paepe, Anne Halliday, Dorothy Boileau, Catherine Pals, Gerard Steinmann, Beat Producer: 20020830 In: Human mutation vol. 19 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	13.	Variant filtering, digenic variants, and other challenges in clinical sequencing: a lesson from fibrillinopathies. [electronic resource] by Najafi, Arash Caspar, Sylvan M Meienberg, Janine Rohrbach, Marianne Steinmann, Beat Matyas, Gabor Producer: 20210208 In: Clinical genetics vol. 97 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	14.	Precise breakpoint localization of large genomic deletions using PacBio and Illumina next-generation sequencers. [electronic resource] by Okoniewski, Michal J Meienberg, Janine Patrignani, Andrea Szabelska, Alicja Matyas, Gabor Schlapbach, Ralph Producer: 20130729 In: BioTechniques vol. 54 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	15.	Identification and in silico analyses of novel TGFBR1 and TGFBR2 mutations in Marfan syndrome-related disorders. [electronic resource] by Mátyás, Gábor Arnold, Eliane Carrel, Thierry Baumgartner, Daniela Boileau, Catherine Berger, Wolfgang Steinmann, Beat Producer: 20061016 In: Human mutation vol. 27 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	16.	Outcome of aortic surgery in patients with Loeys-Dietz syndrome primarily treated as having Marfan syndrome. [electronic resource] by Schoenhoff, Florian S Mueller, Christoph Czerny, Martin Matyas, Gabor Kadner, Alexander Schmidli, Juerg Carrel, Thierry Producer: 20150511 In: European journal of cardio-thoracic surgery : official journal of the European Association for Cardio-thoracic Surgery vol. 46 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	17.	Novel mutations in CACNA1F and NYX in Dutch families with X-linked congenital stationary night blindness. [electronic resource] by Zeitz, Christina Minotti, Roberta Feil, Silke Mátyás, Gábor Cremers, Frans P M Hoyng, Carel B Berger, Wolfgang Producer: 20051110 In: Molecular vision vol. 11 Availability: No items available. Save to lists Add to cart (remove)
	18.	Different patterns of aortic wall elasticity in patients with Marfan syndrome: a noninvasive follow-up study. [electronic resource] by Baumgartner, Daniela Baumgartner, Christian Schermer, Elisabeth Engl, Georg Schweigmann, Ulrich Mátyás, Gabor Steinmann, Beat Stein, Jörg Ingolf Producer: 20061019 In: The Journal of thoracic and cardiovascular surgery vol. 132 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	19.	Large genomic fibrillin-1 (FBN1) gene deletions provide evidence for true haploinsufficiency in Marfan syndrome. [electronic resource] by Mátyás, Gábor Alonso, Sira Patrignani, Andrea Marti, Myriam Arnold, Eliane Magyar, István Henggeler, Caroline Carrel, Thierry Steinmann, Beat Berger, Wolfgang Producer: 20080430 In: Human genetics vol. 122 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	20.	Need for speed in accurate whole-genome data analysis: GENALICE MAP challenges BWA/GATK more than PEMapper/PECaller and Isaac. [electronic resource] by Plüss, Michel Kopps, Anna M Keller, Irene Meienberg, Janine Caspar, Sylvan M Dubacher, Nicolo Bruggmann, Rémy Vogel, Manfred Matyas, Gabor Producer: 20180601 In: Proceedings of the National Academy of Sciences of the United States of America vol. 114 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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Your search returned 38 results.