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1دورية أكاديمية
المؤلفون: Roland Stengl, András Bors, Bence Ágg, Miklós Pólos, Gabor Matyas, Mária Judit Molnár, Bálint Fekete, Dóra Csabán, Hajnalka Andrikovics, Béla Merkely, Tamás Radovits, Zoltán Szabolcs, Kálmán Benke
المصدر: Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-13 (2020)
مصطلحات موضوعية: Marfan syndrome, Genetic testing, Aortic involvement, Risk stratification, FBN1, Next-generation sequencing, Medicine
وصف الملف: electronic resource
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2دورية أكاديمية
المؤلفون: Elisa Bombardieri, Marianne Rohrbach, Matthias Greutmann, Gabor Matyas, Roland Weber, Jovana Radulovic, Margrit Fasnacht Boillat, André Linka, Gabriella De Pasquale, Francesca Bonassin, Christine H. Attenhofer Jost
المصدر: Swiss Medical Weekly, Vol 150, Iss 1314 (2020)
مصطلحات موضوعية: Marfan syndrome, connective tissue disorders, Loeys-Dietz syndrome, genetic testing in Marfan syndrome and related conditions, Medicine
وصف الملف: electronic resource
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3دورية أكاديمية
المؤلفون: Sylvan M. Caspar, Timo Schneider, Janine Meienberg, Gabor Matyas
المصدر: International Journal of Molecular Sciences, Vol 21, Iss 7, p 2308 (2020)
مصطلحات موضوعية: cyp2d6, dpwg, gnomad, next-generation sequencing, precision medicine, pharmacogenetics, pgx, whole-genome sequencing, Biology (General), QH301-705.5, Chemistry, QD1-999
وصف الملف: electronic resource
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4دورية أكاديمية
المؤلفون: Michal J Okoniewski, Janine Meienberg, Andrea Patrignani, Alicja Szabelska, Gabor Matyas, Ralph Schlapbach
المصدر: BioTechniques, Vol 54, Iss 2, Pp 98-100 (2013)
مصطلحات موضوعية: sequencing, large deletions, amplicons, PacBio, Illumina, Sanger, Biology (General), QH301-705.5
وصف الملف: electronic resource
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5
المؤلفون: Giuseppe Limongelli, Gerarda Cappuccio, Daniela Melis, Martina Caiazza, Marta Rubino, Nicola Brunetti-Pierri, Gabor Matyas, Antonella Iuliano, Alessandro Roca
المساهمون: Cappuccio, Gerarda, Caiazza, Martina, Roca, Alessandro, Melis, Daniela, Iuliano, Antonella, Matyas, Gabor, Rubino, Marta, Limongelli, Giuseppe, Brunetti-Pierri, Nicola
المصدر: American Journal of Medical Genetics. Part a
مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Adolescent, losartan, systemic sclerosis, Heart malformation, Pilot Projects, SMAD4, Myhre syndrome, Congenital, Young Adult, Intellectual Disability, Internal medicine, Cryptorchidism, TGF‐beta, Genetics, medicine, Humans, TGF-beta, Preschool, Child, Growth Disorders, Genetics (clinical), Angiotensin II Type 1 Receptor Blockers, Child, Preschool, Facies, Female, Follow-Up Studies, Hand Deformities, Congenital, Losartan, Prognosis, business.industry, Mean age, Original Articles, Hand Deformities, SMAD4 gene, medicine.disease, Clinical trial, Joint stiffness, Cardiology, Original Article, medicine.symptom, business, Range of motion, medicine.drug
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6
المؤلفون: Francesca Bonassin, Murat Yildiz, Giancarlo Bombardieri, Florian Schönhoff, Thierry Carrel, Gabor Matyas, Kerstin Wustmann, Kan Min, Petra Gehle, Christine Attenhofer Jost, Beatrice Früh
المصدر: Zeitschrift für Herz-,Thorax- und Gefäßchirurgie. 34:115-126
مصطلحات موضوعية: Pulmonary and Respiratory Medicine, Gynecology, medicine.medical_specialty, business.industry, Medicine, Surgery, Cardiology and Cardiovascular Medicine, business
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7
المؤلفون: Beat Steinmann, Gabor Matyas, Janine Meienberg, Sylvan M. Caspar, Marianne Rohrbach, Arash Najafi
المساهمون: University of Zurich, Matyas, Gabor
المصدر: Clinical Genetics
مصطلحات موضوعية: Male, 0301 basic medicine, Fibrillin-2, Fibrillin-1, Disease, digenic variants, 030105 genetics & heredity, Genome, INDEL Mutation, Databases, Genetic, Congenital contractural arachnodactyly, Child, Frameshift Mutation, Genetics (clinical), education.field_of_study, Middle Aged, Phenotype, Pedigree, genome sequencing, Female, Original Article, Adult, 2716 Genetics (clinical), Contracture, Adolescent, Genotype, In silico, Population, 610 Medicine & health, Computational biology, Biology, DNA sequencing, congenital contractural arachnodactyly, 03 medical and health sciences, 1311 Genetics, Genetics, medicine, Humans, education, Alleles, Genetic Association Studies, Aged, Sequence (medicine), Whole Genome Sequencing, variant interpretation, Genetic Variation, Original Articles, medicine.disease, Arachnodactyly, Marfan syndrome, 030104 developmental biology, 10036 Medical Clinic
وصف الملف: CGE-97-235.pdf - application/pdf
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8
المؤلفون: Kerstin Wustmann, Beatrice Früh, Murat Yildiz, Petra Gehle, Thierry Carrel, Kan Min, Florian S. Schoenhoff, Giancarlo Bombardieri, Gabor Matyas, Francesca Bonassin, Christine Attenhofer Jost
المصدر: Yildiz, Murat; Gabor, Matyas; Wustmann, Kerstin; Attenhofer Jost, Christine; Bonassin, Francesca; Früh, Beatrice; Kan, Min; Gehle, Petra; Bombardieri, Giancarlo; Carrel, Thierry; Schoenhoff, Florian (2021). Interdisciplinary care of people with Marfan syndrome-Pharmacology, pregnancy, eye, skeleton and organizational aspects. Zeitschrift für Herz-,Thorax-und Gefäßchirurgie, 35(4), pp. 232-241. Springer 10.1007/s00398-021-00444-z <http://dx.doi.org/10.1007/s00398-021-00444-z>
مصطلحات موضوعية: Pulmonary and Respiratory Medicine, Gynecology, 03 medical and health sciences, medicine.medical_specialty, 0302 clinical medicine, business.industry, medicine, Surgery, 610 Medicine & health, 030212 general & internal medicine, 030204 cardiovascular system & hematology, Cardiology and Cardiovascular Medicine, business
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::16647df1ec4e00a667cec2bf02bffa57
https://boris.unibe.ch/157709/1/Yildiz2021_Article_Interdisziplin_reBetreuungVonM.pdf -
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المؤلفون: Miklós Pólos, Béla Merkely, Kálmán Benke, Zoltán Szabolcs, Gábor Szabó, Bence Ágg, Tamás Radovits, Gabor Matyas, Roland Stengl
المصدر: Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-15 (2021)مصطلحات موضوعية: musculoskeletal diseases, Marfan syndrome, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Connective Tissue Disorder, Fibrillin-1, Genotype–phenotype correlations, macromolecular substances, Review, 030204 cardiovascular system & hematology, Risk Assessment, 030218 nuclear medicine & medical imaging, 03 medical and health sciences, 0302 clinical medicine, Quality of life, medicine, Humans, Pharmacology (medical), Prophylactic surgery, Intensive care medicine, Pathological, Genetic Association Studies, Genetics (clinical), Genetic testing, Aortic dissection, medicine.diagnostic_test, Predictors, business.industry, General Medicine, medicine.disease, Prophylactic Surgery, Human genetics, Quality of Life, Medicine, business
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10
المؤلفون: Sylvan M. Caspar, Timo Schneider, Janine Meienberg, Patricia Stoll, Gabor Matyas
المصدر: Pharmacogenomics. 22(3)
مصطلحات موضوعية: Pharmacology, Profiling (computer programming), Whole genome sequencing, Whole Genome Sequencing, Gene Expression Profiling, High-Throughput Nucleotide Sequencing, Computational biology, Biology, Precision medicine, DNA sequencing, Patient care, Pharmacogenomic Testing, Structural variation, Pharmacogenetics, Genetics, Molecular Medicine, Humans, Precision Medicine, Genotyping